Canonical Allele Identifier: CA769091173

Gene: ABCG8

Linked Data

• dbSNP Id: rs1400487858
• gnomAD v3: 2-43877302-CTG-C
• gnomAD v4: 2-43877302-CTG-C
• MyVariant Identifiers: chr2:g.44104442_44104443del (hg19) ; chr2:g.43877303_43877304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877307_43877308del , CM000664.2:g.43877307_43877308del	GRCh38
NC_000002.11:g.44104446_44104447del , CM000664.1:g.44104446_44104447del	GRCh37
NC_000002.10:g.43957950_43957951del	NCBI36
NG_008884.1:g.43344_43345del
NG_008884.2:g.50366_50367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-254_1757-253del MANE Select	ENSP00000272286.2:n.1757-254_1757-253del
ENST00000272286.2:c.1757-254_1757-253del	ENSP00000272286.2:n.1757-254_1757-253del
NM_022437.2:c.1757-254_1757-253del	NP_071882.1:n.1757-254_1757-253del
XM_005264483.2:c.1754-254_1754-253del	XP_005264540.1:n.1754-254_1754-253del
XM_011533029.1:c.1769-254_1769-253del	XP_011531331.1:n.1769-254_1769-253del
XM_011533030.1:c.1766-254_1766-253del	XP_011531332.1:n.1766-254_1766-253del
XM_011533031.1:c.1541-254_1541-253del	XP_011531333.1:n.1541-254_1541-253del
XR_939707.1:n.2259-254_2259-253del
NM_001357321.1:c.1754-254_1754-253del	NP_001344250.1:n.1754-254_1754-253del
XM_011533029.2:c.1769-254_1769-253del	XP_011531331.1:n.1769-254_1769-253del
XM_011533030.2:c.1766-254_1766-253del	XP_011531332.1:n.1766-254_1766-253del
XR_001738891.1:n.2273-254_2273-253del
XR_939707.2:n.2273-254_2273-253del
NM_022437.3:c.1757-254_1757-253del MANE Select	NP_071882.1:n.1757-254_1757-253del
NM_001357321.2:c.1754-254_1754-253del	NP_001344250.1:n.1754-254_1754-253del