Canonical Allele Identifier: CA769091273

Gene: ABCG8

Linked Data

• dbSNP Id: rs1238740237
• gnomAD v4: 2-43877537-AG-A
• MyVariant Identifiers: chr2:g.44104677del (hg19) ; chr2:g.43877538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877538del , CM000664.2:g.43877538del	GRCh38
NC_000002.11:g.44104677del , CM000664.1:g.44104677del	GRCh37
NC_000002.10:g.43958181del	NCBI36
NG_008884.1:g.43575del
NG_008884.2:g.50597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-23del MANE Select	ENSP00000272286.2:n.1757-23del
ENST00000272286.2:c.1757-23del	ENSP00000272286.2:n.1757-23del
NM_022437.2:c.1757-23del	NP_071882.1:n.1757-23del
XM_005264483.2:c.1754-23del	XP_005264540.1:n.1754-23del
XM_011533029.1:c.1769-23del	XP_011531331.1:n.1769-23del
XM_011533030.1:c.1766-23del	XP_011531332.1:n.1766-23del
XM_011533031.1:c.1541-23del	XP_011531333.1:n.1541-23del
XR_939707.1:n.2259-23del
NM_001357321.1:c.1754-23del	NP_001344250.1:n.1754-23del
XM_011533029.2:c.1769-23del	XP_011531331.1:n.1769-23del
XM_011533030.2:c.1766-23del	XP_011531332.1:n.1766-23del
XR_001738891.1:n.2273-23del
XR_939707.2:n.2273-23del
NM_022437.3:c.1757-23del MANE Select	NP_071882.1:n.1757-23del
NM_001357321.2:c.1754-23del	NP_001344250.1:n.1754-23del