Canonical Allele Identifier: CA1022563300

Gene: ABCG1

Linked Data

• dbSNP Id: rs55913235
• gnomAD v3: 21-42296624-G-GTTTTT
• gnomAD v4: 21-42296624-G-GTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42296633_42296637dup , CM000683.2:g.42296633_42296637dup	GRCh38
NC_000021.8:g.43716743_43716747dup , CM000683.1:g.43716743_43716747dup	GRCh37
NC_000021.7:g.42589812_42589816dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398449.8:c.*241_*245dup MANE Select	ENSP00000381467.3:n.*241_*245dup
ENST00000343687.7:c.*241_*245dup	ENSP00000339744.3:n.*241_*245dup
ENST00000347800.6:c.*241_*245dup	ENSP00000291524.4:n.*241_*245dup
ENST00000361802.6:c.*241_*245dup	ENSP00000354995.2:n.*241_*245dup
ENST00000398437.1:c.*241_*245dup	ENSP00000381464.1:n.*241_*245dup
ENST00000398449.7:c.*241_*245dup	ENSP00000381467.3:n.*241_*245dup
ENST00000398457.6:c.*241_*245dup	ENSP00000381475.2:n.*241_*245dup
ENST00000462050.5:n.2426_2430dup
ENST00000472587.5:n.2292_2296dup
NM_004915.3:c.*241_*245dup	NP_004906.3:n.*241_*245dup
NM_016818.2:c.*241_*245dup	NP_058198.2:n.*241_*245dup
NM_207174.1:c.*241_*245dup	NP_997057.1:n.*241_*245dup
NM_207627.1:c.*241_*245dup	NP_997510.1:n.*241_*245dup
NM_207628.1:c.*241_*245dup	NP_997511.1:n.*241_*245dup
NM_207629.1:c.*241_*245dup	NP_997512.1:n.*241_*245dup
XM_011529806.1:c.*241_*245dup	XP_011528108.1:n.*241_*245dup
XM_011529807.1:c.*407_*411dup	XP_011528109.1:n.*407_*411dup
XM_011529807.3:c.*407_*411dup	XP_011528109.1:n.*407_*411dup
XM_024452141.1:c.*241_*245dup	XP_024307909.1:n.*241_*245dup
NM_004915.4:c.*241_*245dup	NP_004906.3:n.*241_*245dup
NM_016818.3:c.*241_*245dup MANE Select	NP_058198.2:n.*241_*245dup
NM_207627.2:c.*241_*245dup	NP_997510.1:n.*241_*245dup
NM_207629.2:c.*241_*245dup	NP_997512.1:n.*241_*245dup