Canonical Allele Identifier: CA1029989028

Gene: ABCG8

Linked Data

• dbSNP Id: rs1669989690
• gnomAD v3: 2-43877283-CTG-C
• gnomAD v4: 2-43877283-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877286_43877287del , CM000664.2:g.43877286_43877287del	GRCh38
NC_000002.11:g.44104425_44104426del , CM000664.1:g.44104425_44104426del	GRCh37
NC_000002.10:g.43957929_43957930del	NCBI36
NG_008884.1:g.43323_43324del
NG_008884.2:g.50345_50346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-275_1757-274del MANE Select	ENSP00000272286.2:n.1757-275_1757-274del
ENST00000272286.2:c.1757-275_1757-274del	ENSP00000272286.2:n.1757-275_1757-274del
NM_022437.2:c.1757-275_1757-274del	NP_071882.1:n.1757-275_1757-274del
XM_005264483.2:c.1754-275_1754-274del	XP_005264540.1:n.1754-275_1754-274del
XM_011533029.1:c.1769-275_1769-274del	XP_011531331.1:n.1769-275_1769-274del
XM_011533030.1:c.1766-275_1766-274del	XP_011531332.1:n.1766-275_1766-274del
XM_011533031.1:c.1541-275_1541-274del	XP_011531333.1:n.1541-275_1541-274del
XR_939707.1:n.2259-275_2259-274del
NM_001357321.1:c.1754-275_1754-274del	NP_001344250.1:n.1754-275_1754-274del
XM_011533029.2:c.1769-275_1769-274del	XP_011531331.1:n.1769-275_1769-274del
XM_011533030.2:c.1766-275_1766-274del	XP_011531332.1:n.1766-275_1766-274del
XR_001738891.1:n.2273-275_2273-274del
XR_939707.2:n.2273-275_2273-274del
NM_022437.3:c.1757-275_1757-274del MANE Select	NP_071882.1:n.1757-275_1757-274del
NM_001357321.2:c.1754-275_1754-274del	NP_001344250.1:n.1754-275_1754-274del