(used for variant description)
(last modified June 12, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000158.3 in the GBE1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011810.1, covering GBE1 transcript NM_000158.3.
(upstream sequence)
. . . . g.5043
gtgagtgggcggagaggcctcggtgcctcctacccgctccgga c.-241
. . . . . . g.5103
cgtgcgtcccggcatcaccccgggatccgctcctccccgctggcggggggagaaagggca c.-181
. . . . . . g.5163
ggaggccttccgtcccggctataaagggccccggaccgccgcggctcgcctcggcttgcc c.-121
. . . . . . g.5223
tcgacacgcctaggcgccctccggctccgccctagccgccgcgtcccagctagagctcca c.-61
. . . . . . g.5283
gcgcccgctcaggccccactcgaccctctcgggcctcggctacttggactgcggcggaat c.-1
. . . . . . g.5343
ATGGCGGCTCCGATGACTCCCGCGGCTCGGCCCGAGGACTACGAGGCGGCGCTCAATGCC c.60
M A A P M T P A A R P E D Y E A A L N A p.20
. . . . . . g.5403
GCCCTGGCTGACGTGCCCGAACTGGCCAGACTCCTGGAGATCGACCCGTACTTGAAGCCC c.120
A L A D V P E L A R L L E I D P Y L K P p.40
. . | 02 . . . . g.61224
TACGCCGTGGACTTCCAGCGCAG | GTATAAGCAGTTTAGCCAAATTTTGAAGAACATTGGA c.180
Y A V D F Q R R | Y K Q F S Q I L K N I G p.60
. . . . . . g.61284
GAAAATGAAGGTGGTATTGATAAGTTTTCCAGAGGCTATGAATCATTTGGCGTCCACAGA c.240
E N E G G I D K F S R G Y E S F G V H R p.80
. . . . . . g.61344
TGTGCTGATGGTGGTTTATACTGCAAAGAATGGGCCCCGGGAGCAGAAGGAGTTTTTCTT c.300
C A D G G L Y C K E W A P G A E G V F L p.100
. | 03 . . . . . g.95894
ACTGGAGATTTTA | ATGGTTGGAATCCATTTTCGTACCCATACAAAAAACTGGATTATGGA c.360
T G D F N | G W N P F S Y P Y K K L D Y G p.120
. . . . . . g.95954
AAATGGGAGCTGTATATCCCACCAAAGCAGAATAAATCTGTACTCGTGCCTCATGGATCC c.420
K W E L Y I P P K Q N K S V L V P H G S p.140
| 04 . . . . . g.116930
AAATTAAAG | GTAGTTATTACTAGTAAAAGCGGAGAGATCTTGTATCGTATTTCACCGTGG c.480
K L K | V V I T S K S G E I L Y R I S P W p.160
. . . . . . g.116990
GCAAAGTATGTGGTTCGTGAAGGTGATAATGTGAATTATGATTGGATACACTGGGATCCA c.540
A K Y V V R E G D N V N Y D W I H W D P p.180
. | 05 . . . . . g.117854
GAACACTCATATGAG | TTTAAGCATTCCAGACCAAAGAAGCCACGGAGTCTAAGAATTTAT c.600
E H S Y E | F K H S R P K K P R S L R I Y p.200
. . . . . . g.117914
GAATCTCATGTGGGAATTTCTTCCCATGAAGGAAAAGTAGCTTCTTATAAACATTTTACA c.660
E S H V G I S S H E G K V A S Y K H F T p.220
. . . | 06 . . . g.120347
TGCAATGTACTACCAAGAATCAAAGGCCTTG | GATACAACTGCATTCAGTTGATGGCAATC c.720
C N V L P R I K G L G | Y N C I Q L M A I p.240
. . . . . . g.120407
ATGGAGCATGCTTACTATGCCAGCTTTGGTTACCAAATCACAAGCTTCTTTGCAGCTTCC c.780
M E H A Y Y A S F G Y Q I T S F F A A S p.260
| 07 . . . . . . g.123868
AG | CCGTTATGGAACACCTGAAGAGCTACAAGAACTGGTAGACACAGCTCATTCCATGGGT c.840
S | R Y G T P E E L Q E L V D T A H S M G p.280
. . . . . . g.123928
ATCATAGTCCTCTTAGATGTGGTACACAGCCATGCTTCAAAAAATTCAGCAGATGGATTG c.900
I I V L L D V V H S H A S K N S A D G L p.300
. . . . . . g.123988
AATATGTTTGATGGGACAGATTCCTGTTATTTTCATTCTGGACCTAGAGGGACTCATGAT c.960
N M F D G T D S C Y F H S G P R G T H D p.320
. . . | 08 . . . g.172805
CTTTGGGATAGCAGATTGTTTGCCTACTCCAG | CTGGGAAGTTTTAAGATTCCTTCTGTCA c.1020
L W D S R L F A Y S S | W E V L R F L L S p.340
. . . . . . g.172865
AACATAAGATGGTGGTTGGAAGAATATCGCTTTGATGGATTTCGTTTTGATGGTGTTACG c.1080
N I R W W L E E Y R F D G F R F D G V T p.360
. . | 09 . . . g.175668
TCCATGCTTTATCATCACCATGGAGTGG | GTCAAGGTTTCTCAGGTGATTACAGTGAATAT c.1140
S M L Y H H H G V G | Q G F S G D Y S E Y p.380
. . . . . . g.175728
TTCGGACTACAAGTAGATGAAGATGCCTTGACTTACCTCATGTTGGCAAATCATTTGGTT c.1200
F G L Q V D E D A L T Y L M L A N H L V p.400
. . . | 10 . . . g.180634
CACACGCTGTGTCCCGATTCTATAACAATAGCTGAG | GATGTATCAGGAATGCCAGCTCTG c.1260
H T L C P D S I T I A E | D V S G M P A L p.420
. . . . . . g.180694
TGCTCTCCAATTTCCCAGGGAGGGGGTGGTTTTGACTATCGACTAGCCATGGCAATTCCA c.1320
C S P I S Q G G G G F D Y R L A M A I P p.440
. | 11 . . . . . g.185570
GATAAGTGGATTCAG | CTACTTAAAGAGTTTAAAGATGAAGACTGGAACATGGGCGATATA c.1380
D K W I Q | L L K E F K D E D W N M G D I p.460
. . . . . . g.185630
GTATACACGCTCACAAACAGGCGCTACCTTGAAAAGTGCATTGCTTATGCAGAGAGCCAT c.1440
V Y T L T N R R Y L E K C I A Y A E S H p.480
| 12 . . . . . . g.188758
GATCAG | GCATTGGTTGGGGATAAGTCGCTGGCATTTTGGTTGATGGATGCCGAAATGTAT c.1500
D Q | A L V G D K S L A F W L M D A E M Y p.500
. . . . . . g.188818
ACAAACATGAGTGTCCTGACTCCTTTTACTCCAGTTATTGATCGTGGAATACAGCTTCAT c.1560
T N M S V L T P F T P V I D R G I Q L H p.520
. . . . . | 13 g.229707
AAAATGATTCGACTCATTACGCATGGGCTTGGTGGAGAAGGCTATCTCAATTTCATGG | GT c.1620
K M I R L I T H G L G G E G Y L N F M G | p.540
. . . . . . g.229767
AATGAATTTGGGCATCCTGAATGGTTAGACTTCCCAAGAAAAGGAAATAATGAGAGTTAC c.1680
N E F G H P E W L D F P R K G N N E S Y p.560
. . . . . . g.229827
CATTATGCCAGGCGGCAGTTTCATTTAACTGACGACGACCTTCTTCGCTACAAGTTCCTA c.1740
H Y A R R Q F H L T D D D L L R Y K F L p.580
. . . . . . g.229887
AATAATTTTGACAGGGATATGAATAGATTGGAAGAAAGATATGGTTGGCTTGCAGCTCCA c.1800
N N F D R D M N R L E E R Y G W L A A P p.600
| 14 . . . . . . g.231532
CAG | GCCTACGTGAGTGAAAAACATGAAGGCAATAAGATCATTGCTTTTGAAAGAGCAGGT c.1860
Q | A Y V S E K H E G N K I I A F E R A G p.620
. . . . . . g.231592
CTTCTTTTCATTTTCAACTTCCATCCAAGCAAGAGCTACACTGACTACCGAGTTGGAACA c.1920
L L F I F N F H P S K S Y T D Y R V G T p.640
. | 15 . . . . . g.267619
GCATTGCCAGGGAA | ATTCAAAATTGTGCTAGATTCAGATGCAGCGGAATATGGAGGGCAT c.1980
A L P G K | F K I V L D S D A A E Y G G H p.660
. . . . . . g.267679
CAGAGACTGGACCACAGCACTGACTTTTTTTCTGAGGCTTTTGAACATAATGGGCGTCCC c.2040
Q R L D H S T D F F S E A F E H N G R P p.680
. | 16 . . . . . g.276385
TATTCTCTTTTG | GTGTACATTCCAAGCAGAGTGGCCCTCATCCTTCAGAATGTGGATCTG c.2100
Y S L L | V Y I P S R V A L I L Q N V D L p.700
g.276394
CCGAATTGA c.2109
P N X p.702
. . . . . . g.276454
agaggcctgatttcagctccaccagatgcagatttgtgttttgttttcttgttatcactg c.*60
. . . . . . g.276514
tcacacagcttataacatgtatgcttttcagaatacagttgtctagccaagccatcaagt c.*120
. . . . . . g.276574
gtctgaaattcaatattggtttatgcaaatacagcaaacttttatttaagtagatgggag c.*180
. . . . . . g.276634
aatatgtttaaaatattaggaatcctagaccatattttcaagtcatcttagcagctagga c.*240
. . . . . . g.276694
ttctcaaatggaagtgttatatataatatgttaaaaacattttgctttcctggctaatta c.*300
. . . . . . g.276754
tttgatccttttaaattcaaatttgaatcatttgtcatgtatgattatttctgttaaatg c.*360
. . . . . . g.276814
tacacagtatttaagatggatatttggtggctctatttgttctgatatcttttggtctaa c.*420
. . . . . . g.276874
attatgaggtaccaagattgtttctttgtttctttttttcaaattgtgtttagaaatact c.*480
. . . . . . g.276934
gtaataaatatgcagtagtgatataaagaattatatccaaggtaatataaaagccattac c.*540
. . . . . . g.276994
gtatgaactcatccgtgtctcattttgtgttttattttgtgatctcttgtccactaagta c.*600
. . . . . . g.277054
tcttgttaaatgccagtatctcagtctttctgaagccctgaaatggtaattgtagcattt c.*660
. . . . g.277102
cagaaaatgtctttcatttcaatcaataaaaagcttttgtaaaattgc c.*708
(downstream sequence)
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