Canonical Allele Identifier: CA975104500

Gene: ABCC1

Linked Data

• gnomAD v3: 16-16142064-T-TGGGG
• gnomAD v4: 16-16142064-T-TGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16142064_16142065insGGGG , CM000678.2:g.16142064_16142065insGGGG	GRCh38
NC_000016.9:g.16235921_16235922insGGGG , CM000678.1:g.16235921_16235922insGGGG	GRCh37
NC_000016.8:g.16143422_16143423insGGGG	NCBI36
NG_028268.1:g.197488_197489insGGGG
NG_028268.2:g.197488_197489insGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000399408.7:c.*783_*784insGGGG	ENSP00000382340.4:n.*783_*784insGGGG
ENST00000399410.8:c.*783_*784insGGGG MANE Select	ENSP00000382342.3:n.*783_*784insGGGG
ENST00000572882.3:c.*783_*784insGGGG	ENSP00000461615.2:n.*783_*784insGGGG
ENST00000676806.1:n.2105_2106insGGGG
ENST00000677164.1:c.*783_*784insGGGG	ENSP00000502873.1:n.*783_*784insGGGG
ENST00000678422.1:c.*2476_*2477insGGGG	ENSP00000503954.1:n.*2476_*2477insGGGG
ENST00000399408.6:c.*783_*784insGGGG	ENSP00000382340.3:n.*783_*784insGGGG
ENST00000399410.7:c.*783_*784insGGGG	ENSP00000382342.3:n.*783_*784insGGGG
NM_004996.3:c.*783_*784insGGGG	NP_004987.2:n.*783_*784insGGGG
XM_011522497.1:c.*783_*784insGGGG	XP_011520799.1:n.*783_*784insGGGG
XM_011522498.1:c.*783_*784insGGGG	XP_011520800.1:n.*783_*784insGGGG
XM_011522498.2:c.*783_*784insGGGG	XP_011520800.1:n.*783_*784insGGGG
XM_017023237.1:c.*783_*784insGGGG	XP_016878726.1:n.*783_*784insGGGG
XM_017023238.1:c.*783_*784insGGGG	XP_016878727.1:n.*783_*784insGGGG
XM_017023239.1:c.*783_*784insGGGG	XP_016878728.1:n.*783_*784insGGGG
XM_017023240.1:c.*783_*784insGGGG	XP_016878729.1:n.*783_*784insGGGG
XM_017023241.1:c.*783_*784insGGGG	XP_016878730.1:n.*783_*784insGGGG
XM_017023242.1:c.*783_*784insGGGG	XP_016878731.1:n.*783_*784insGGGG
NM_004996.4:c.*783_*784insGGGG MANE Select	NP_004987.2:n.*783_*784insGGGG