Canonical Allele Identifier: CA2631958570

Gene: ABCC1

Linked Data

• gnomAD v4: 16-16142104-C-CAAGCAGAAGACGGCATACGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16142104_16142105insAAGCAGAAGACGGCATACGAGA , CM000678.2:g.16142104_16142105insAAGCAGAAGACGGCATACGAGA	GRCh38
NC_000016.9:g.16235961_16235962insAAGCAGAAGACGGCATACGAGA , CM000678.1:g.16235961_16235962insAAGCAGAAGACGGCATACGAGA	GRCh37
NC_000016.8:g.16143462_16143463insAAGCAGAAGACGGCATACGAGA	NCBI36
NG_028268.1:g.197528_197529insAAGCAGAAGACGGCATACGAGA
NG_028268.2:g.197528_197529insAAGCAGAAGACGGCATACGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399408.7:c.*823_*824insAAGCAGAAGACGGCATACGAGA	ENSP00000382340.4:n.*823_*824insAAGCAGAAGACGGCATACGAGA
ENST00000399410.8:c.*823_*824insAAGCAGAAGACGGCATACGAGA MANE Select	ENSP00000382342.3:n.*823_*824insAAGCAGAAGACGGCATACGAGA
ENST00000572882.3:c.*823_*824insAAGCAGAAGACGGCATACGAGA	ENSP00000461615.2:n.*823_*824insAAGCAGAAGACGGCATACGAGA
ENST00000676806.1:n.2145_2146insAAGCAGAAGACGGCATACGAGA
ENST00000677164.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	ENSP00000502873.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
ENST00000678422.1:c.*2516_*2517insAAGCAGAAGACGGCATACGAGA	ENSP00000503954.1:n.*2516_*2517insAAGCAGAAGACGGCATACGAGA
ENST00000399408.6:c.*823_*824insAAGCAGAAGACGGCATACGAGA	ENSP00000382340.3:n.*823_*824insAAGCAGAAGACGGCATACGAGA
ENST00000399410.7:c.*823_*824insAAGCAGAAGACGGCATACGAGA	ENSP00000382342.3:n.*823_*824insAAGCAGAAGACGGCATACGAGA
NM_004996.3:c.*823_*824insAAGCAGAAGACGGCATACGAGA	NP_004987.2:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_011522497.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_011520799.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_011522498.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_011520800.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_011522498.2:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_011520800.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_017023237.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_016878726.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_017023238.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_016878727.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_017023239.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_016878728.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_017023240.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_016878729.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_017023241.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_016878730.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
XM_017023242.1:c.*823_*824insAAGCAGAAGACGGCATACGAGA	XP_016878731.1:n.*823_*824insAAGCAGAAGACGGCATACGAGA
NM_004996.4:c.*823_*824insAAGCAGAAGACGGCATACGAGA MANE Select	NP_004987.2:n.*823_*824insAAGCAGAAGACGGCATACGAGA