Canonical Allele Identifier: CA2654667703

Gene: ABCG1

Linked Data

• gnomAD v4: 21-42219007-TCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42219013_42219015del , CM000683.2:g.42219013_42219015del	GRCh38
NC_000021.8:g.43639123_43639125del , CM000683.1:g.43639123_43639125del	GRCh37
NC_000021.7:g.42512192_42512194del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347800.6:c.33+2825_33+2827del	ENSP00000291524.4:n.33+2825_33+2827del
ENST00000398457.6:c.49-6658_49-6656del	ENSP00000381475.2:n.49-6658_49-6656del
ENST00000462050.5:n.227-6658_227-6656del
NM_207627.1:c.49-6658_49-6656del	NP_997510.1:n.49-6658_49-6656del
NM_207628.1:c.-24-6658_-24-6656del	NP_997511.1:n.-24-6658_-24-6656del
NM_207629.1:c.33+2825_33+2827del	NP_997512.1:n.33+2825_33+2827del
XR_937748.1:n.2744+1140_2744+1142del
XR_937748.3:n.5512+1140_5512+1142del
NM_207627.2:c.49-6658_49-6656del	NP_997510.1:n.49-6658_49-6656del
NM_207629.2:c.33+2825_33+2827del	NP_997512.1:n.33+2825_33+2827del