Canonical Allele Identifier: CA2210125581

Gene: ABCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16142226_16142230delinsAGAGT , CM000678.2:g.16142226_16142230delinsAGAGT	GRCh38
NC_000016.9:g.16236083_16236087delinsAGAGT , CM000678.1:g.16236083_16236087delinsAGAGT	GRCh37
NC_000016.8:g.16143584_16143588delinsAGAGT	NCBI36
NG_028268.1:g.197650_197654delinsAGAGT
NG_028268.2:g.197650_197654delinsAGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.*945_*949delinsAGAGT	ENSP00000382340.4:n.*945_*949delinsAGAGT
ENST00000399410.8:c.*945_*949delinsAGAGT MANE Select	ENSP00000382342.3:n.*945_*949delinsAGAGT
ENST00000572882.3:c.*945_*949delinsAGAGT	ENSP00000461615.2:n.*945_*949delinsAGAGT
ENST00000676806.1:n.2267_2271delinsAGAGT
ENST00000677164.1:c.*945_*949delinsAGAGT	ENSP00000502873.1:n.*945_*949delinsAGAGT
ENST00000678422.1:c.*2638_*2642delinsAGAGT	ENSP00000503954.1:n.*2638_*2642delinsAGAGT
ENST00000399408.6:c.*945_*949delinsAGAGT	ENSP00000382340.3:n.*945_*949delinsAGAGT
ENST00000399410.7:c.*945_*949delinsAGAGT	ENSP00000382342.3:n.*945_*949delinsAGAGT
NM_004996.3:c.*945_*949delinsAGAGT	NP_004987.2:n.*945_*949delinsAGAGT
XM_011522497.1:c.*945_*949delinsAGAGT	XP_011520799.1:n.*945_*949delinsAGAGT
XM_011522498.1:c.*945_*949delinsAGAGT	XP_011520800.1:n.*945_*949delinsAGAGT
XM_011522498.2:c.*945_*949delinsAGAGT	XP_011520800.1:n.*945_*949delinsAGAGT
XM_017023237.1:c.*945_*949delinsAGAGT	XP_016878726.1:n.*945_*949delinsAGAGT
XM_017023238.1:c.*945_*949delinsAGAGT	XP_016878727.1:n.*945_*949delinsAGAGT
XM_017023239.1:c.*945_*949delinsAGAGT	XP_016878728.1:n.*945_*949delinsAGAGT
XM_017023240.1:c.*945_*949delinsAGAGT	XP_016878729.1:n.*945_*949delinsAGAGT
XM_017023241.1:c.*945_*949delinsAGAGT	XP_016878730.1:n.*945_*949delinsAGAGT
XM_017023242.1:c.*945_*949delinsAGAGT	XP_016878731.1:n.*945_*949delinsAGAGT
NM_004996.4:c.*945_*949delinsAGAGT MANE Select	NP_004987.2:n.*945_*949delinsAGAGT