Canonical Allele Identifier: CA769063107

Gene: ABCG8

Linked Data

• dbSNP Id: rs1453888437
• gnomAD v3: 2-43846510-CTGT-C
• gnomAD v4: 2-43846510-CTGT-C
• MyVariant Identifiers: chr2:g.44073650_44073652del (hg19) ; chr2:g.43846511_43846513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846515_43846517del , CM000664.2:g.43846515_43846517del	GRCh38
NC_000002.11:g.44073654_44073656del , CM000664.1:g.44073654_44073656del	GRCh37
NC_000002.10:g.43927158_43927160del	NCBI36
NG_008884.1:g.12552_12554del
NG_008884.2:g.19574_19576del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+204_322+206del MANE Select	ENSP00000272286.2:n.322+204_322+206del
ENST00000643284.1:n.983_985del
ENST00000644611.1:c.334+204_334+206del	ENSP00000495423.1:n.334+204_334+206del
ENST00000272286.2:c.322+204_322+206del	ENSP00000272286.2:n.322+204_322+206del
NM_022437.2:c.322+204_322+206del	NP_071882.1:n.322+204_322+206del
XM_005264483.2:c.322+204_322+206del	XP_005264540.1:n.322+204_322+206del
XM_011533029.1:c.334+204_334+206del	XP_011531331.1:n.334+204_334+206del
XM_011533030.1:c.334+204_334+206del	XP_011531332.1:n.334+204_334+206del
XM_011533031.1:c.106+204_106+206del	XP_011531333.1:n.106+204_106+206del
XR_939707.1:n.824+204_824+206del
NM_001357321.1:c.322+204_322+206del	NP_001344250.1:n.322+204_322+206del
XM_011533029.2:c.334+204_334+206del	XP_011531331.1:n.334+204_334+206del
XM_011533030.2:c.334+204_334+206del	XP_011531332.1:n.334+204_334+206del
XR_001738891.1:n.838+204_838+206del
XR_939707.2:n.838+204_838+206del
NM_022437.3:c.322+204_322+206del MANE Select	NP_071882.1:n.322+204_322+206del
NM_001357321.2:c.322+204_322+206del	NP_001344250.1:n.322+204_322+206del