(used for variant description)
(last modified August 22, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_178425.2 in the HDAC9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering HDAC9 transcript NM_178425.2.
(upstream sequence)
. . . . g.414354
atggggtggctggacgagagcagctcttggctcagcaaaga c.-1
. . | 02 . . . . g.503370
ATGCACAGTATGATCAGCTCAG | TGGATGTGAAGTCAGAAGTTCCTGTGGGCCTGGAGCCC c.60
M H S M I S S V | D V K S E V P V G L E P p.20
. . . . . . g.503430
ATCTCACCTTTAGACCTAAGGACAGACCTCAGGATGATGATGCCCGTGGTGGACCCTGTT c.120
I S P L D L R T D L R M M M P V V D P V p.40
. . . . . . g.503490
GTCCGTGAGAAGCAATTGCAGCAGGAATTACTTCTTATCCAGCAGCAGCAACAAATCCAG c.180
V R E K Q L Q Q E L L L I Q Q Q Q Q I Q p.60
. . . . . . g.503550
AAGCAGCTTCTGATAGCAGAGTTTCAGAAACAGCATGAGAACTTGACACGGCAGCACCAG c.240
K Q L L I A E F Q K Q H E N L T R Q H Q p.80
. . | 03 . . . . g.508423
GCTCAGCTTCAGGAGCATATCAAG | TTGCAACAGGAACTTCTAGCCATAAAACAGCAACAA c.300
A Q L Q E H I K | L Q Q E L L A I K Q Q Q p.100
. . . . . . g.508483
GAACTCCTAGAAAAGGAGCAGAAACTGGAGCAGCAGAGGCAAGAACAGGAAGTAGAGAGG c.360
E L L E K E Q K L E Q Q R Q E Q E V E R p.120
. . . . . | 04 . g.509572
CATCGCAGAGAACAGCAGCTTCCTCCTCTCAGAGGCAAAGATAGAGGACGAGAAA | GGGCA c.420
H R R E Q Q L P P L R G K D R G R E R | A p.140
. . . . . . g.509632
GTGGCAAGTACAGAAGTAAAGCAGAAGCTTCAAGAGTTCCTACTGAGTAAATCAGCAACG c.480
V A S T E V K Q K L Q E F L L S K S A T p.160
. . . . . . g.509692
AAAGACACTCCAACTAATGGAAAAAATCATTCCGTGAGCCGCCATCCCAAGCTCTGGTAC c.540
K D T P T N G K N H S V S R H P K L W Y p.180
| 05 . . . . . . g.512017
AC | GGCTGCCCACCACACATCATTGGATCAAAGCTCTCCACCCCTTAGTGGAACATCTCCA c.600
T | A A H H T S L D Q S S P P L S G T S P p.200
. . . . . . g.512077
TCCTACAAGTACACATTACCAGGAGCACAAGATGCAAAGGATGATTTCCCCCTTCGAAAA c.660
S Y K Y T L P G A Q D A K D D F P L R K p.220
| 06 . . . . . . g.547457
ACTG | CCTCTGAGCCCAACTTGAAGGTGCGGTCCAGGTTAAAACAGAAAGTGGCAGAGAGG c.720
T A | S E P N L K V R S R L K Q K V A E R p.240
. . . . . . g.547517
AGAAGCAGCCCCTTACTCAGGCGGAAGGATGGAAATGTTGTCACTTCATTCAAGAAGCGA c.780
R S S P L L R R K D G N V V T S F K K R p.260
. | 07 . . . . . g.552722
ATGTTTGAGGTGACAG | AATCCTCAGTCAGTAGCAGTTCTCCAGGCTCTGGTCCCAGTTCA c.840
M F E V T E | S S V S S S S P G S G P S S p.280
. . . . . . g.552782
CCAAACAATGGGCCAACTGGAAGTGTTACTGAAAATGAGACTTCGGTTTTGCCCCCTACC c.900
P N N G P T G S V T E N E T S V L P P T p.300
. | 08 . . . . . g.562770
CCTCATGCCGAG | CAAATGGTTTCACAGCAACGCATTCTAATTCATGAAGATTCCATGAAC c.960
P H A E | Q M V S Q Q R I L I H E D S M N p.320
. . . . . . g.562830
CTGCTAAGTCTTTATACCTCTCCTTCTTTGCCCAACATTACCTTGGGGCTTCCCGCAGTG c.1020
L L S L Y T S P S L P N I T L G L P A V p.340
. | 09 . . . . . g.565881
CCATCCCAGCTCAAT | GCTTCGAATTCACTCAAAGAAAAGCAGAAGTGTGAGACGCAGACG c.1080
P S Q L N | A S N S L K E K Q K C E T Q T p.360
. . . . . . g.565941
CTTAGGCAAGGTGTTCCTCTGCCTGGGCAGTATGGAGGCAGCATCCCGGCATCTTCCAGC c.1140
L R Q G V P L P G Q Y G G S I P A S S S p.380
. . . . . . g.566001
CACCCTCATGTTACTTTAGAGGGAAAGCCACCCAACAGCAGCCACCAGGCTCTCCTGCAG c.1200
H P H V T L E G K P P N S S H Q A L L Q p.400
. . . . | 10 . g.566528
CATTTATTATTGAAAGAACAAATGCGACAGCAAAAGCTTCTTGTAGCTG | GTGGAGTTCCC c.1260
H L L L K E Q M R Q Q K L L V A G | G V P p.420
. . . . . . g.566588
TTACATCCTCAGTCTCCCTTGGCAACAAAAGAGAGAATTTCACCTGGCATTAGAGGTACC c.1320
L H P Q S P L A T K E R I S P G I R G T p.440
. . . . . . g.566648
CACAAATTGCCCCGTCACAGACCCCTGAACCGAACCCAGTCTGCACCTTTGCCTCAGAGC c.1380
H K L P R H R P L N R T Q S A P L P Q S p.460
. . . . . . g.566708
ACGTTGGCTCAGCTGGTCATTCAACAGCAACACCAGCAATTCTTGGAGAAGCAGAAGCAA c.1440
T L A Q L V I Q Q Q H Q Q F L E K Q K Q p.480
. . | 11. . . . g.584297
TACCAGCAGCAGATCCACATGAACAAA | CTGCTTTCGAAATCTATTGAACAACTGAAGCAA c.1500
Y Q Q Q I H M N K | L L S K S I E Q L K Q p.500
. . . . . . g.584357
CCAGGCAGTCACCTTGAGGAAGCAGAGGAAGAGCTTCAGGGGGACCAGGCGATGCAGGAA c.1560
P G S H L E E A E E E L Q G D Q A M Q E p.520
. . . . . . g.584417
GACAGAGCGCCCTCTAGTGGCAACAGCACTAGGAGCGACAGCAGTGCTTGTGTGGATGAC c.1620
D R A P S S G N S T R S D S S A C V D D p.540
. . . . . . g.584477
ACACTGGGACAAGTTGGGGCTGTGAAGGTCAAGGAGGAACCAGTGGACAGTGATGAAGAT c.1680
T L G Q V G A V K V K E E P V D S D E D p.560
. . . . . | 12 . g.645640
GCTCAGATCCAGGAAATGGAATCTGGGGAGCAGGCTGCTTTTATGCAACAG | CCTTTCCTG c.1740
A Q I Q E M E S G E Q A A F M Q Q | P F L p.580
. . . . . . g.645700
GAACCCACGCACACACGTGCGCTCTCTGTGCGCCAAGCTCCGCTGGCTGCGGTTGGCATG c.1800
E P T H T R A L S V R Q A P L A A V G M p.600
. . . . . . g.645760
GATGGATTAGAGAAACACCGTCTCGTCTCCAGGACTCACTCTTCCCCTGCTGCCTCTGTT c.1860
D G L E K H R L V S R T H S S P A A S V p.620
. . . . | 13 . g.667067
TTACCTCACCCAGCAATGGACCGCCCCCTCCAGCCTGGCTCTGCAACTG | GAATTGCCTAT c.1920
L P H P A M D R P L Q P G S A T G | I A Y p.640
. . . . . . g.667127
GACCCCTTGATGCTGAAACACCAGTGCGTTTGTGGCAATTCCACCACCCACCCTGAGCAT c.1980
D P L M L K H Q C V C G N S T T H P E H p.660
. . . . . . g.667187
GCTGGACGAATACAGAGTATCTGGTCACGACTGCAAGAAACTGGGCTGCTAAATAAATGT c.2040
A G R I Q S I W S R L Q E T G L L N K C p.680
| 14 . . . . . . g.680265
GAG | CGAATTCAAGGTCGAAAAGCCAGCCTGGAGGAAATACAGCTTGTTCATTCTGAACAT c.2100
E | R I Q G R K A S L E E I Q L V H S E H p.700
. . . . . . g.680325
CACTCACTGTTGTATGGCACCAACCCCCTGGACGGACAGAAGCTGGACCCCAGGATACTC c.2160
H S L L Y G T N P L D G Q K L D P R I L p.720
| 15 . . . . . | 16 . g.711402
CTAG | GTGATGACTCTCAAAAGTTTTTTTCCTCATTACCTTGTGGTGGACTTGGG | GTGGAC c.2220
L G | D D S Q K F F S S L P C G G L G | V D p.740
. . . . . . g.711462
AGTGACACCATTTGGAATGAGCTACACTCGTCCGGTGCTGCACGCATGGCTGTTGGCTGT c.2280
S D T I W N E L H S S G A A R M A V G C p.760
. . . . | 17 . . g.747230
GTCATCGAGCTGGCTTCCAAAGTGGCCTCAGGAGAGCTGAAG | AATGGGTTTGCTGTTGTG c.2340
V I E L A S K V A S G E L K | N G F A V V p.780
. . . | 18 . . g.747534
AGGCCCCCTGGCCATCACGCTGAAGAATCCACAGCCAT | GGGGTTCTGCTTTTTTAATTCA c.2400
R P P G H H A E E S T A M | G F C F F N S p.800
. . . . . . g.747594
GTTGCAATTACCGCCAAATACTTGAGAGACCAACTAAATATAAGCAAGATATTGATTGTA c.2460
V A I T A K Y L R D Q L N I S K I L I V p.820
| 19 . . . . . . g.753572
GATCTG | GATGTTCACCATGGAAACGGTACCCAGCAGGCCTTTTATGCTGACCCCAGCATC c.2520
D L | D V H H G N G T Q Q A F Y A D P S I p.840
. . . . . . g.753632
CTGTACATTTCACTCCATCGCTATGATGAAGGGAACTTTTTCCCTGGCAGTGGAGCCCCA c.2580
L Y I S L H R Y D E G N F F P G S G A P p.860
| 20 . . . . . . g.754005
AATGAG | GTTGGAACAGGCCTTGGAGAAGGGTACAATATAAATATTGCCTGGACAGGTGGC c.2640
N E | V G T G L G E G Y N I N I A W T G G p.880
. . . . | 21 . . g.792545
CTTGATCCTCCCATGGGAGATGTTGAGTACCTTGAAGCATTCAG | GACCATCGTGAAGCCT c.2700
L D P P M G D V E Y L E A F R | T I V K P p.900
. . . . . . g.792605
GTGGCCAAAGAGTTTGATCCAGACATGGTCTTAGTATCTGCTGGATTTGATGCATTGGAA c.2760
V A K E F D P D M V L V S A G F D A L E p.920
. . . . | 22 . . g.853877
GGCCACACCCCTCCTCTAGGAGGGTACAAAGTGACGGCAAAAT | GTTTTGGTCATTTGACG c.2820
G H T P P L G G Y K V T A K C | F G H L T p.940
. . . . . . g.853937
AAGCAATTGATGACATTGGCTGATGGACGTGTGGTGTTGGCTCTAGAAGGAGGACATGAT c.2880
K Q L M T L A D G R V V L A L E G G H D p.960
. . . . . | 23. g.872200
CTCACAGCCATCTGTGATGCATCAGAAGCCTGTGTAAATGCCCTTCTAGGAAATGAG | CTG c.2940
L T A I C D A S E A C V N A L L G N E | L p.980
. . . . . . g.872260
GAGCCACTTGCAGAAGATATTCTCCACCAAAGCCCGAATATGAATGCTGTTATTTCTTTA c.3000
E P L A E D I L H Q S P N M N A V I S L p.1000
. . | 24 . . . . g.893895
CAGAAGATCATTGAAATTCAAA | GCAAGTATTGGAAGTCAGTAAGGATGGTGGCTGTGCCA c.3060
Q K I I E I Q S | K Y W K S V R M V A V P p.1020
. . . . . . g.893955
AGGGGCTGTGCTCTGGCTGGTGCTCAGTTGCAAGAGGAGACAGAGACCGTTTCTGCCCTG c.3120
R G C A L A G A Q L Q E E T E T V S A L p.1040
. . . . . | 25 . g.914084
GCCTCCCTAACAGTGGATGTGGAACAGCCCTTTGCTCAGGAAGACAGCAG | AACTGCTGGT c.3180
A S L T V D V E Q P F A Q E D S R | T A G p.1060
. . . g.914114
GAGCCTATGGAAGAGGAGCCAGCCTTGTGA c.3210
E P M E E E P A L X p.1069
. . . . . . g.914174
agtgccaagtccccctctgatatttcctgtgtgtgacatcattgtgtatccccccacccc c.*60
. . . . . . g.914234
agtaccctcagacatgtcttgtctgctgcctgggtggcacagattcaatggaacataaac c.*120
. . . . . . g.914294
actgggcacaaaattctgaacagcagcttcacttgttctttggatggacttgaaagggca c.*180
. . . . . . g.914354
ttaaagattccttaaacgtaaccgctgtgattctagagttacagtaaaccacgattggaa c.*240
. . . . . . g.914414
gaaactgcttccagcatgcttttaatatgctgggtgacccactcctagacaccaagtttg c.*300
. . . . . . g.914474
aactagaaacattcagtacagcactagatattgttaatttcagaagctatgacagccagt c.*360
. . . . . . g.914534
gaaattttgggcaaaacctgagacatagtcattcctgacattctgatcagctttttttgg c.*420
. . . . . . g.914594
ggtaatttgtttttcaaacagtcttaacttgtttacaagatttgcttttagctatgaacg c.*480
. . . . . . g.914654
gatcgtaattccacccagaatgtaatgtttcttgtttgtttgttttgttttgttagggtt c.*540
. . . . . . g.914714
tttttctcaactttaacacacagttcaactgttcctagtaaaagttcaagatggaggaac c.*600
. . . . . . g.914774
tagcatgaggcttttttcagtatctcgaagtccaaatgccaaaggaacctcacacactgt c.*660
. . . . . . g.914834
ttgtaatggtgcaatattttatatcacttttttttaaacatccccaacatctttgtgttc c.*720
. . . . . . g.914894
tcacacacaggcaatttgcaatgttgcaattgtgttggagaatgaagtccccccacctcc c.*780
. . . . . . g.914954
cagccacacacacatcctttgttctcatgacagtaggtctgagcaaatgttccaccaagc c.*840
. . . . . . g.915014
attttcagtgtctttgaaaagcacgtaacttttcaaaggtggtcttaatttgttgcatat c.*900
. . . . . . g.915074
ctatcaaggacttattcactcacctttccttttctgccctctatcaattgatttcttctt c.*960
. . . . . . g.915134
acctttcatcattcattccttcctttagaaaaactgaagattacccataatctcctctta c.*1020
. . . . . . g.915194
ttacttgagggccttgactatttagtttattttgtttactttacaggttaacacagttgt c.*1080
. . . . . . g.915254
tttgtctgattgcattttattaactgtgaagccgttgaaatgaatatcacttaagcaacg c.*1140
. . . . . . g.915314
ttgctaaatttctatgtgtttgaaatgtgttaatgaaggcactgcttatttgtagtcacc c.*1200
. . . . . . g.915374
ttgaactgacttaacctagaagctgtgccttcttgtgaaaaaaaaaaaaaacaaaaacaa c.*1260
. . . . g.915422
aaaacagcctttaaacaagtttccttagtgtcaaaagttaaaaataaa c.*1308
(downstream sequence)
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