Canonical Allele Identifier: CA769057127

Gene: ABCG8

Linked Data

• dbSNP Id: rs1305468981
• gnomAD v3: 2-43839343-GA-G
• gnomAD v4: 2-43839343-GA-G
• MyVariant Identifiers: chr2:g.44066483del (hg19) ; chr2:g.43839344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839346del , CM000664.2:g.43839346del	GRCh38
NC_000002.11:g.44066485del , CM000664.1:g.44066485del	GRCh37
NC_000002.10:g.43919989del	NCBI36
NG_008883.1:g.4476del
NG_008884.1:g.5383del
NG_008884.2:g.12405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+230del MANE Select	ENSP00000272286.2:n.63+230del
ENST00000643284.1:n.521-5161del
ENST00000644611.1:c.76-5161del	ENSP00000495423.1:n.76-5161del
ENST00000272286.2:c.63+230del	ENSP00000272286.2:n.63+230del
NM_022437.2:c.63+230del	NP_071882.1:n.63+230del
XM_005264483.2:c.63+230del	XP_005264540.1:n.63+230del
XM_011533029.1:c.76-5161del	XP_011531331.1:n.76-5161del
XM_011533030.1:c.76-5161del	XP_011531332.1:n.76-5161del
XM_011533031.1:c.-153-5161del	XP_011531333.1:n.-153-5161del
XR_939707.1:n.566-5161del
NM_001357321.1:c.63+230del	NP_001344250.1:n.63+230del
XM_011533029.2:c.76-5161del	XP_011531331.1:n.76-5161del
XM_011533030.2:c.76-5161del	XP_011531332.1:n.76-5161del
XR_001738891.1:n.580-5161del
XR_939707.2:n.580-5161del
NM_022437.3:c.63+230del MANE Select	NP_071882.1:n.63+230del
NM_001357321.2:c.63+230del	NP_001344250.1:n.63+230del