(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_145698.3 in the ACBD5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032960.3, covering ACBD5 transcript NM_145698.3.
(upstream sequence)
. g.6271
tgcactgctgc c.-181
. . . . . . g.6331
tgcggcggcggcggcgccagtgggtcctccggtgactctggggcggggctgtggggaggg c.-121
. . . . . . g.6391
cacggactgacagacggactccggcggaatggggggtgtggctgctccgccagggtcccc c.-61
. . . . . . g.6451
agggtgggagagcggctccgcggccaccgatgcccggaccccctctgtcttctgctagac c.-1
. | 02 . . . . . g.6700
ATGCTCTTCCTCTCG | TTTCATGCAGGCTCTTGGGAAAGCTGGTGCTGCTGCTGCCTGATT c.60
M L F L S | F H A G S W E S W C C C C L I p.20
. . . . . . g.6760
CCCGCCGACAGACCTTGGGACCGGGGCCAACACTGGCAGCTGGAGATGGCGGACACGAGA c.120
P A D R P W D R G Q H W Q L E M A D T R p.40
. . . . . . g.6820
TCCGTGCACGAGACTAGGTTTGAGGCGGCCGTGAAGGTGATCCAGAGTTTGCCGAAGAAT c.180
S V H E T R F E A A V K V I Q S L P K N p.60
| 03 . . . . . . g.11986
G | GTTCATTCCAGCCAACAAATGAAATGATGCTTAAATTTTATAGCTTCTATAAGCAGGCA c.240
G | S F Q P T N E M M L K F Y S F Y K Q A p.80
. . . . . . g.12046
ACTGAAGGACCCTGTAAACTTTCAAGGCCTGGATTTTGGGATCCTATTGGAAGATATAAA c.300
T E G P C K L S R P G F W D P I G R Y K p.100
| 04 . . . . . . g.15377
TG | GGATGCTTGGAGTTCACTGGGTGATATGACCAAAGAGGAAGCCATGATTGCATATGTT c.360
W | D A W S S L G D M T K E E A M I A Y V p.120
. | 05 . . . . . g.23732
GAAGAAATGAAAAAG | ATTATTGAAACTATGCCAATGACTGAGAAAGTTGAAGAATTGCTG c.420
E E M K K | I I E T M P M T E K V E E L L p.140
. . . . . . g.23792
CGTGTCATAGGTCCATTTTATGAAATTGTCGAGGACAAAAAGAGTGGCAGGAGTTCTGAT c.480
R V I G P F Y E I V E D K K S G R S S D p.160
. | 06 . . . . . g.27332
ATAACCTCAG | ATCTTGGTAATGTTCTCACTTCTACTCCAAACGCCAAAACCGTTAATGGT c.540
I T S D | L G N V L T S T P N A K T V N G p.180
. . . . . . g.27392
AAAGCTGAAAGCAGTGACAGTGGAGCCGAGTCTGAGGAAGAAGAGGCCCAAGAAGAAGTG c.600
K A E S S D S G A E S E E E E A Q E E V p.200
. . | 07 . . . . g.28991
AAAGGAGCAGAACAAAGTGATAATG | ATAAGAAAATGATGAAGAAGTCAGCAGACCATAAG c.660
K G A E Q S D N D | K K M M K K S A D H K p.220
. . . . . . g.29051
AATTTGGAAGTCATTGTCACTAATGGCTATGATAAAGATGGCTTTGTTCAGGATATACAG c.720
N L E V I V T N G Y D K D G F V Q D I Q p.240
. . . . . . g.29111
AATGACATTCATGCCAGTTCTTCCCTGAATGGCAGAAGCACTGAAGAAGTAAAGCCCATT c.780
N D I H A S S S L N G R S T E E V K P I p.260
. . . . | 08 . g.31509
GATGAAAACTTGGGGCAAACTGGAAAATCTGCTGTTTGCATTCACCAAG | ATATAAATGAT c.840
D E N L G Q T G K S A V C I H Q D | I N D p.280
. . . . . . g.31569
GATCATGTTGAAGATGTTACAGGAATTCAGCATTTGACAAGCGATTCAGACAGTGAAGTT c.900
D H V E D V T G I Q H L T S D S D S E V p.300
. . . | 09 . . . g.36082
TACTGTGATTCTATGGAACAATTTGGACAAGAAGAG | TCTTTAGACAGCTTTACGTCCAAC c.960
Y C D S M E Q F G Q E E | S L D S F T S N p.320
. . . . . . g.36142
AATGGACCATTTCAGTATTACTTGGGTGGTCATTCCAGTCAACCCATGGAAAATTCTGGA c.1020
N G P F Q Y Y L G G H S S Q P M E N S G p.340
. . . . . . g.36202
TTTCGTGAAGATATTCAAGTACCTCCTGGAAATGGCAACATTGGGAATATGCAGGTGGTT c.1080
F R E D I Q V P P G N G N I G N M Q V V p.360
. . . . . . g.36262
GCAGTTGAAGGAAAAGGTGAAGTCAAGCATGGAGGAGAAGATGGCAGGAATAACAGCGGA c.1140
A V E G K G E V K H G G E D G R N N S G p.380
. . . . . . g.36322
GCACCACACCGGGAGAAGCGAGGCGGAGAAACTGACGAATTCTCTAATGTTAGAAGAGGA c.1200
A P H R E K R G G E T D E F S N V R R G p.400
| 10 . . . . . . g.38750
AGAG | GACATAGGATGCAACACTTGAGCGAAGGAACCAAGGGCCGGCAGGTGGGAAGTGGA c.1260
R G | H R M Q H L S E G T K G R Q V G S G p.420
. . . . . . g.38810
GGTGATGGGGAGCGCTGGGGCTCCGACAGAGGGTCCCGAGGCAGCCTCAATGAGCAGATC c.1320
G D G E R W G S D R G S R G S L N E Q I p.440
. . . . . . g.38870
GCCCTCGTGCTGATGAGACTGCAGGAGGACATGCAGAATGTCCTTCAGAGACTGCAGAAA c.1380
A L V L M R L Q E D M Q N V L Q R L Q K p.460
. . | 11 . . . . g.41927
CTGGAAACGCTGACTGCTTTGCAG | GCAAAATCATCAACATCAACATTGCAGACTGCTCCT c.1440
L E T L T A L Q | A K S S T S T L Q T A P p.480
. | 12 . . . . . g.42635
CAGCCCACCTCACAG | AGACCATCTTGGTGGCCCTTCGAGATGTCTCCTGGTGTGCTAACG c.1500
Q P T S Q | R P S W W P F E M S P G V L T p.500
. . . . . . g.42695
TTTGCCATCATATGGCCTTTTATTGCACAGTGGTTGGTGTATTTATACTATCAAAGAAGG c.1560
F A I I W P F I A Q W L V Y L Y Y Q R R p.520
| 13 . g.49752
AGAAG | AAAACTGAACTGA c.1578
R R | K L N X p.525
. . . . . . g.49812
ggaaaatggtgttttcctcaagaagactactggaactggatgacctcagaatgaactgga c.*60
. . . . . . g.49872
ttgtggtgttcacaagaaaatcttagtttgtgatgattacattgctttttgttgtccagt c.*120
. . . . . . g.49932
agtttagtttgtgtacatatatacacatatatattttgcactacacaaacgataacattt c.*180
. . . . . . g.49992
taaggactaatattgctgatacttgaataatcaatctctactaggttataagtagtatac c.*240
. . . . . . g.50052
acagatttaccctgcccttgaacttgaaggacattaaattattaatgatcatttggtaac c.*300
. . . . . . g.50112
atgtttacctgattatcttccatagagtaacataagctgcttttcaaaggtaccattgtg c.*360
. . . . . . g.50172
ataatgagatcaaatttataagttattatttttaattttctaaattaaataaaagaaaga c.*420
. . . . . . g.50232
atgcaaaccaggagtgaatttcaaatgagatgtaatcgactttatatcttagtcacggag c.*480
. . . . . . g.50292
ttgccatggcatgtagtagaaaaccacaggaagaatggtcatattcactttgtgggctgc c.*540
. . . . . . g.50352
ccataatctttcttgggcattcacaactcttgagtttggtgttcaggcatcattattaaa c.*600
. . . . . . g.50412
aagtggagtcctatgtaccagactgagtttttacaaatgatttgcaggctagacataacc c.*660
. . . . . . g.50472
cactgatggaaatggtgaagaatgagcttcatgtaggtttaaaagtgtattctgagcctg c.*720
. . . . . . g.50532
tagatgattaatcaggtttttattcaatcatataaatgtattcctttgtaatcatttttg c.*780
. . . . . . g.50592
tttaactgaggatatctagtgtctgcttcatagggtgctttgaaatataaaatgaaaact c.*840
. . . . . . g.50652
tatttatactgtttttacaacagtcaaaaaggaaacacacgaaaatcacttttctgcaac c.*900
. . . . . . g.50712
tgatgaactatatagactggactcttaacctcttagtgcctcagtttttccttcggggta c.*960
. . . . . . g.50772
tactattttagatacacctacttcacaggagtactggagggatttgcaagctaacgggcc c.*1020
. . . . . . g.50832
aaatgcttccataggaataaggcatgcccagctaacagaaatttaagtccctcttcccca c.*1080
. . . . . . g.50892
cctctctcatctagaccaaaaagaagactacaatttagatccttggagacttttcctgta c.*1140
. . . . . . g.50952
tgccttccaaaacttcctgctcacttagatgtaccttgtgctttgaagatttctttgatg c.*1200
. . . . . . g.51012
cagtctttgtaacaaataatttttttttttaaatggagtttctctcttgttgcccaggct c.*1260
. . . . . . g.51072
ggagggcaatggcgtgatcttggctcactgcaacttccacctcctgggttcaagtgattc c.*1320
. . . . . . g.51132
tcctgcctcactcccaagtagctgggattacaggcatgcaccaccatgcctggctaattt c.*1380
. . . . . . g.51192
tgtatttttagtagagacggggtttctccatgttggtaaggctgatctcaaactcccaac c.*1440
. . . . . . g.51252
ctcaggtgatctgcctgcctcggcctcccaaagtgctgggattagaggcgtgagccactg c.*1500
. . . . . . g.51312
cacctggcctgtagcaaataatttttaagcattctcaagatgtatgatgttgggtttaac c.*1560
. . . . . . g.51372
atcatatgttcacagtgttttaaataagaaataatctgtctttagtatacagaatggttc c.*1620
. . . . . . g.51432
tttgtttgcctgaaaagtataagaatacaatttacttttcccaaactctttttccttatt c.*1680
. . . . . . g.51492
tttttctttcaaataactttaattatttaatcccatactgattaaaatatgtctgtctaa c.*1740
. . . . . . g.51552
agggatctactactatttgcttttaaaaaagtgttccctatttatttaggaaaaagtgaa c.*1800
. . . . . . g.51612
gcaagcaactgaatttatatgtaaaaataacatttagacctgtggatcaaagattatttt c.*1860
. . . . . . g.51672
caaaaatgagatatcaatttggtatcagtaaaaagtgtcttttctcttagtatataaata c.*1920
. . . . . . g.51732
aataaaatgcaaattaagagtgtaagcagttgtgaatcattacaagcagtctgggataac c.*1980
. . . . . . g.51792
taactcctagggataaccatttctatcctgttccaaagtcttattttatagtttgaaaag c.*2040
. . . . . . g.51852
cactttgcacacagttcttgtatataaaagtaaagatgtaattataggatatagtgttcc c.*2100
. . . . . . g.51912
tgctttgtttaataagaacctcatttaaacttgacagctatggtatttttttaatgataa c.*2160
. . . . . g.51968
cttcttttctgtttattgtaaaactaagttaaaaataaaaggttaatgagaaatga c.*2216
(downstream sequence)
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