Canonical Allele Identifier: CA769091151

Gene: ABCG8

Linked Data

• dbSNP Id: rs1342816739
• gnomAD v3: 2-43877265-CGTGGGAATATGGGGAGACT-C
• gnomAD v4: 2-43877265-CGTGGGAATATGGGGAGACT-C
• MyVariant Identifiers: chr2:g.44104405_44104423del (hg19) ; chr2:g.43877266_43877284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877277_43877295del , CM000664.2:g.43877277_43877295del	GRCh38
NC_000002.11:g.44104416_44104434del , CM000664.1:g.44104416_44104434del	GRCh37
NC_000002.10:g.43957920_43957938del	NCBI36
NG_008884.1:g.43314_43332del
NG_008884.2:g.50336_50354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-284_1757-266del MANE Select	ENSP00000272286.2:n.1757-284_1757-266del
ENST00000272286.2:c.1757-284_1757-266del	ENSP00000272286.2:n.1757-284_1757-266del
NM_022437.2:c.1757-284_1757-266del	NP_071882.1:n.1757-284_1757-266del
XM_005264483.2:c.1754-284_1754-266del	XP_005264540.1:n.1754-284_1754-266del
XM_011533029.1:c.1769-284_1769-266del	XP_011531331.1:n.1769-284_1769-266del
XM_011533030.1:c.1766-284_1766-266del	XP_011531332.1:n.1766-284_1766-266del
XM_011533031.1:c.1541-284_1541-266del	XP_011531333.1:n.1541-284_1541-266del
XR_939707.1:n.2259-284_2259-266del
NM_001357321.1:c.1754-284_1754-266del	NP_001344250.1:n.1754-284_1754-266del
XM_011533029.2:c.1769-284_1769-266del	XP_011531331.1:n.1769-284_1769-266del
XM_011533030.2:c.1766-284_1766-266del	XP_011531332.1:n.1766-284_1766-266del
XR_001738891.1:n.2273-284_2273-266del
XR_939707.2:n.2273-284_2273-266del
NM_022437.3:c.1757-284_1757-266del MANE Select	NP_071882.1:n.1757-284_1757-266del
NM_001357321.2:c.1754-284_1754-266del	NP_001344250.1:n.1754-284_1754-266del