Canonical Allele Identifier: CA2210125756
Gene: ABCC1 HGNC NCBI

Linked Data

dbSNP Id: rs2046162578

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16142530_16142531insACT , CM000678.2:g.16142530_16142531insACT GRCh38
NC_000016.9:g.16236387_16236388insACT , CM000678.1:g.16236387_16236388insACT GRCh37
NC_000016.8:g.16143888_16143889insACT NCBI36
NG_028268.1:g.197954_197955insACT
NG_028268.2:g.197954_197955insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000399408.7:c.*1249_*1250insACT ENSP00000382340.4:n.*1249_*1250insACT
ENST00000399410.8:c.*1249_*1250insACT MANE Select ENSP00000382342.3:n.*1249_*1250insACT
ENST00000572882.3:c.*1249_*1250insACT ENSP00000461615.2:n.*1249_*1250insACT
ENST00000676806.1:n.2571_2572insACT
ENST00000677164.1:c.*1249_*1250insACT ENSP00000502873.1:n.*1249_*1250insACT
ENST00000678422.1:c.*2942_*2943insACT ENSP00000503954.1:n.*2942_*2943insACT
ENST00000399408.6:c.*1249_*1250insACT ENSP00000382340.3:n.*1249_*1250insACT
ENST00000399410.7:c.*1249_*1250insACT ENSP00000382342.3:n.*1249_*1250insACT
NM_004996.3:c.*1249_*1250insACT NP_004987.2:n.*1249_*1250insACT
XM_011522497.1:c.*1249_*1250insACT XP_011520799.1:n.*1249_*1250insACT
XM_011522498.1:c.*1249_*1250insACT XP_011520800.1:n.*1249_*1250insACT
XM_011522498.2:c.*1249_*1250insACT XP_011520800.1:n.*1249_*1250insACT
XM_017023237.1:c.*1249_*1250insACT XP_016878726.1:n.*1249_*1250insACT
XM_017023238.1:c.*1249_*1250insACT XP_016878727.1:n.*1249_*1250insACT
XM_017023239.1:c.*1249_*1250insACT XP_016878728.1:n.*1249_*1250insACT
XM_017023240.1:c.*1249_*1250insACT XP_016878729.1:n.*1249_*1250insACT
XM_017023241.1:c.*1249_*1250insACT XP_016878730.1:n.*1249_*1250insACT
XM_017023242.1:c.*1249_*1250insACT XP_016878731.1:n.*1249_*1250insACT
NM_004996.4:c.*1249_*1250insACT MANE Select NP_004987.2:n.*1249_*1250insACT