(used for variant description)
(last modified February 28, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001655.4 in the ARCN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering ARCN1 transcript NM_001655.4.
(upstream sequence)
. . . . g.5041
gaagacgtggcttggggccgccatcttggcaagaggcgaag c.-121
. . . . . . g.5101
cggcagcggttcctgtcaagggggcagcaggtccagagctgctggtgctcccgttcccca c.-61
. . . . . . g.5161
gaccctacccctatccccagtggagccggagtgcgggcgcgccccaccaccgccctcacc c.-1
| 02 . . . . . . g.13916
ATG | GTGCTGTTGGCAGCAGCGGTCTGCACAAAAGCAGGAAAGGCTATTGTTTCTCGACAG c.60
M | V L L A A A V C T K A G K A I V S R Q p.20
. . . . . . g.13976
TTTGTGGAAATGACCCGAACTCGGATTGAGGGCTTATTAGCAGCTTTTCCAAAGCTCATG c.120
F V E M T R T R I E G L L A A F P K L M p.40
. . . . . . g.14036
AACACTGGAAAACAACATACGTTTGTTGAAACAGAGAGTGTAAGATATGTCTACCAGCCT c.180
N T G K Q H T F V E T E S V R Y V Y Q P p.60
. . . . . . g.14096
ATGGAGAAACTGTATATGGTACTGATCACTACCAAAAACAGCAACATTTTAGAAGATTTG c.240
M E K L Y M V L I T T K N S N I L E D L p.80
. . | 03. . . . g.15825
GAGACCCTAAGGCTCTTCTCAAGAGTG | ATCCCTGAATATTGCCGAGCCTTAGAAGAGAAT c.300
E T L R L F S R V | I P E Y C R A L E E N p.100
. . . . . . g.15885
GAAATATCTGAGCACTGTTTTGATTTGATTTTTGCTTTTGATGAAATTGTCGCACTGGGA c.360
E I S E H C F D L I F A F D E I V A L G p.120
. . . . . . g.15945
TACCGGGAGAATGTTAACTTGGCACAGATCAGAACCTTCACAGAAATGGATTCTCATGAG c.420
Y R E N V N L A Q I R T F T E M D S H E p.140
. . | 04. . . . g.16455
GAGAAGGTGTTCAGAGCCGTCAGAGAG | ACTCAAGAACGTGAAGCTAAGGCTGAGATGCGT c.480
E K V F R A V R E | T Q E R E A K A E M R p.160
. . . . . . g.16515
CGTAAAGCAAAGGAATTACAACAGGCCCGAAGAGATGCAGAGAGACAGGGCAAAAAAGCA c.540
R K A K E L Q Q A R R D A E R Q G K K A p.180
. . . . . . g.16575
CCAGGATTTGGCGGATTTGGCAGCTCTGCAGTATCTGGAGGCAGCACAGCTGCCATGATC c.600
P G F G G F G S S A V S G G S T A A M I p.200
. . . . . | 05 . g.17100
ACAGAGACCATCATTGAAACTGATAAACCAAAAGTGGCACCTGCACCAGCCAG | GCCTTCA c.660
T E T I I E T D K P K V A P A P A R | P S p.220
. . . . . . g.17160
GGCCCCAGCAAGGCTTTAAAACTTGGAGCCAAAGGAAAGGAAGTAGATAACTTTGTGGAC c.720
G P S K A L K L G A K G K E V D N F V D p.240
. . . . . . g.17220
AAATTAAAATCTGAAGGTGAAACCATCATGTCCTCTAGTATGGGCAAGCGTACTTCTGAA c.780
K L K S E G E T I M S S S M G K R T S E p.260
. . . | 06 . . g.22976
GCAACCAAAATGCATGCTCCACCCATTAATATGGAAAG | TGTACATATGAAGATTGAAGAA c.840
A T K M H A P P I N M E S | V H M K I E E p.280
. . . . . . g.23036
AAGATAACATTAACCTGTGGACGAGACGGAGGATTACAGAATATGGAGTTGCATGGCATG c.900
K I T L T C G R D G G L Q N M E L H G M p.300
. . . . . . g.23096
ATCATGCTTAGGATCTCAGATGACAAGTATGGCCGAATTCGTCTTCATGTGGAAAATGAA c.960
I M L R I S D D K Y G R I R L H V E N E p.320
. . | 07 . . . . g.25358
GATAAGAAAGGGGTGCAGCTACAG | ACCCATCCAAATGTGGATAAAAAACTTTTCACTGCA c.1020
D K K G V Q L Q | T H P N V D K K L F T A p.340
. . . . . . g.25418
GAGTCTCTAATTGGCCTGAAGAATCCAGAGAAGTCATTTCCAGTCAACAGTGACGTAGGG c.1080
E S L I G L K N P E K S F P V N S D V G p.360
. . . . . | 08 . g.26211
GTGCTAAAGTGGAGACTACAAACCACAGAGGAATCTTTTATTCCACTGACAA | TTAATTGC c.1140
V L K W R L Q T T E E S F I P L T I | N C p.380
. . . . . . g.26271
TGGCCCTCGGAGAGTGGAAATGGCTGTGATGTCAACATAGAATATGAGCTACAAGAAGAT c.1200
W P S E S G N G C D V N I E Y E L Q E D p.400
. . . . | 09 . . g.30339
AATTTAGAACTGAATGATGTGGTTATCACCATCCCACTCCC | GTCTGGTGTCGGCGCGCCT c.1260
N L E L N D V V I T I P L P | S G V G A P p.420
. . . . . . g.30399
GTTATCGGTGAGATCGATGGGGAGTATCGACATGACAGTCGACGAAATACCCTGGAGTGG c.1320
V I G E I D G E Y R H D S R R N T L E W p.440
. . . . . . g.30459
TGCCTGCCTGTGATTGATGCCAAAAATAAGAGTGGCAGCCTGGAGTTTAGCATTGCTGGG c.1380
C L P V I D A K N K S G S L E F S I A G p.460
. . . . . . g.30519
CAGCCCAATGACTTCTTCCCTGTTCAAGTTTCCTTTGTCTCCAAGAAAAATTACTGTAAC c.1440
Q P N D F F P V Q V S F V S K K N Y C N p.480
| 10 . . . . . . g.33292
ATACAG | GTTACCAAAGTGACCCAGGTAGATGGAAACAGCCCCGTCAGGTTTTCCACAGAG c.1500
I Q | V T K V T Q V D G N S P V R F S T E p.500
. . . g.33328
ACCACTTTCCTAGTGGATAAGTATGAAATTCTGTAA c.1536
T T F L V D K Y E I L X p.511
. . . . . . g.33388
taccaagaagagggagctgaaaaggaaaattttcagattaataaagaagacgccaatgat c.*60
. . . . . . g.33448
ggctgaagagtttttcccagatttacaagccactggagaccccttttttctgatacaatg c.*120
. . . . . . g.33508
cacgattctctgcgcgcaaggaccctcgactcacccccatgtttcagtgtcacagagaca c.*180
. . . . . . g.33568
ttctttgataaggaaatggcacaaacataaagggaaaggctgctaattttctttggcaga c.*240
. . . . . . g.33628
ttgtattggccagcaggaaagcaagctctccagagaatgcccccagttaaatacctcctc c.*300
. . . . . . g.33688
tacctttacctaagttgctcctttatttttattttattattattattattattattatta c.*360
. . . . . . g.33748
ttttttgagatggagtctcactttgtaacccaggctggaatgcaatggcatgatctcagc c.*420
. . . . . . g.33808
tcactgcaacctccgcctcctgggttcaagcaagtctcctgcctcagcctccgagtagct c.*480
. . . . . . g.33868
gggactacaggtgcacgccaccacgcctggctaattttttgtattttagtagagacgggg c.*540
. . . . . . g.33928
tttcaccgtgttgcccaggctggtcgcgaactcctgagctcaggcaatccgcccacctca c.*600
. . . . . . g.33988
gcctcccaaagtgttgggattacaggcatgagccaccatgcccagctgctcctttatttt c.*660
. . . . . . g.34048
aatccctaaatataatccctaaatatagttatatttcatacttagtttgtttttaaaaag c.*720
. . . . . . g.34108
ttttctctgtagaaaattttaatcattcataccctttacctttaggtttttctttctata c.*780
. . . . . . g.34168
cattcagtcaggcactgggatcatctgtttacaggcattatatttatttggcactcctgg c.*840
. . . . . . g.34228
aacaagtatatctaacccattcttgatttttggactattcaggtgaactatttgaggggt c.*900
. . . . . . g.34288
atggggtctagaagttaaaagatacgcatgtcttctgttcttttcccgtatcaattcatt c.*960
. . . . . . g.34348
ccttcatctctttgccaagttgttttcctttcagggcctgtccttccagtttagaacagt c.*1020
. . . . . . g.34408
accatgaatcccacttgtgtcaatattaaagatagctgagaagcacctttcaaatggcac c.*1080
. . . . . . g.34468
agtccctcttcaagatgtctaaaagaatggttatgtctgtccagttagggatttcacatc c.*1140
. . . . . . g.34528
cacatgtaatcatgtctgctgctgttgctacccaaattttcatttctccacattttgggt c.*1200
. . . . . . g.34588
acttaagctaaaacgtaatggccacagtctgtaatccattcacattcctcagtttcacca c.*1260
. . . . . . g.34648
cctccctcttccagactgcactctctgtcatcagtcccctcctttctaacagaaatgggg c.*1320
. . . . . . g.34708
ttatgattttgaaggctgtgggttcagggagtctttgccaatcctgttggccctaaacta c.*1380
. . . . . . g.34768
tcaaggaggctccatttcaccatttgattttttgcatttcaggaggcaactgattgtttc c.*1440
. . . . . . g.34828
gatatgtacatattactcacgtataccccatttccttccagtcagcccaacattttccac c.*1500
. . . . . . g.34888
cagtctgtccccatctctgaaatccttccttctctttccccctaagtcttttgagtgtca c.*1560
. . . . . . g.34948
tcatgtactggtggtttctcggttccatctcatccatttccttttcaatggagactacag c.*1620
. . . . . . g.35008
cgtcagccagctcagccttggcttttaactcaatattccagtccataggggtggttaaaa c.*1680
. . . . . . g.35068
gttgctgcaaggctgcaggcactggcagtgggaagaggcagacgactagatgacttctgc c.*1740
. . . . . . g.35128
acttttagctggttgaaaagtaccactcccactctgaacatctggccgtccctgcaaaga c.*1800
. . . . . . g.35188
gtgtactgtgcttgaagcagagcactcacacataaatggctgtgtgtggaattgcttgcc c.*1860
. . . . . . g.35248
aaagaagtttctagcctttccctttcccctaactgcatcagggaagaattcttatctcta c.*1920
. . . . . . g.35308
gcttggtttccacatgaggtttttctgagaagggcttgggacaagaagtctgtcatgtta c.*1980
. . . . . . g.35368
gttaagcaggcaagaaatcctactaatccagttttgtttgaaagttgtttgtccgtatga c.*2040
. . . . . . g.35428
ttttttaaaagtcaagtttaatttcaaaaaaccttttttttctgagattacttttggggt c.*2100
. . . . . . g.35488
aatatttaaaatgagagacattttgtaaccctgtaaaatacatagggaatataacattcc c.*2160
. . . . . . g.35548
agtgtatacaaagaaggcaaattctttaatcaaataaagcgcattataaaatgagatgtt c.*2220
. . . . . . g.35608
tattggattattgactcactttggtgtctgcttgttgattcaggatgctgtaatgggacc c.*2280
. . . g.35647
taacattaaaaattaatgacatgttttttttaagagaaa c.*2319
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2025 Leiden University Medical Center