Canonical Allele Identifier: CA637898464

Gene: ABCG1

Linked Data

• dbSNP Id: rs1486849172
• gnomAD v2: 21-43639026-CCCGGGGTTT-C
• gnomAD v3: 21-42218916-CCCGGGGTTT-C
• gnomAD v4: 21-42218916-CCCGGGGTTT-C
• MyVariant Identifiers: chr21:g.43639027_43639035del (hg19) ; chr21:g.42218917_42218925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42218924_42218932del , CM000683.2:g.42218924_42218932del	GRCh38
NC_000021.8:g.43639034_43639042del , CM000683.1:g.43639034_43639042del	GRCh37
NC_000021.7:g.42512103_42512111del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347800.6:c.33+2736_33+2744del	ENSP00000291524.4:n.33+2736_33+2744del
ENST00000398457.6:c.49-6747_49-6739del	ENSP00000381475.2:n.49-6747_49-6739del
ENST00000462050.5:n.227-6747_227-6739del
NM_207627.1:c.49-6747_49-6739del	NP_997510.1:n.49-6747_49-6739del
NM_207628.1:c.-24-6747_-24-6739del	NP_997511.1:n.-24-6747_-24-6739del
NM_207629.1:c.33+2736_33+2744del	NP_997512.1:n.33+2736_33+2744del
XR_937748.1:n.2744+1225_2744+1233del
XR_937748.3:n.5512+1225_5512+1233del
NM_207627.2:c.49-6747_49-6739del	NP_997510.1:n.49-6747_49-6739del
NM_207629.2:c.33+2736_33+2744del	NP_997512.1:n.33+2736_33+2744del