Canonical Allele Identifier: CA2658820809

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43839099-ACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839101_43839103del , CM000664.2:g.43839101_43839103del	GRCh38
NC_000002.11:g.44066240_44066242del , CM000664.1:g.44066240_44066242del	GRCh37
NC_000002.10:g.43919744_43919746del	NCBI36
NG_008883.1:g.4718_4720del
NG_008884.1:g.5138_5140del
NG_008884.2:g.12160_12162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.48_50del MANE Select	ENSP00000272286.2:p.Pro17del
ENST00000643284.1:n.521-5406_521-5404del
ENST00000644611.1:c.76-5406_76-5404del	ENSP00000495423.1:n.76-5406_76-5404del
ENST00000272286.2:c.48_50del	ENSP00000272286.2:p.Pro17del
NM_022437.2:c.48_50del	NP_071882.1:p.Pro17del
XM_005264483.2:c.48_50del	XP_005264540.1:p.Pro17del
XM_011533029.1:c.76-5406_76-5404del	XP_011531331.1:n.76-5406_76-5404del
XM_011533030.1:c.76-5406_76-5404del	XP_011531332.1:n.76-5406_76-5404del
XM_011533031.1:c.-153-5406_-153-5404del	XP_011531333.1:n.-153-5406_-153-5404del
XR_939707.1:n.566-5406_566-5404del
NM_001357321.1:c.48_50del	NP_001344250.1:p.Pro17del
XM_011533029.2:c.76-5406_76-5404del	XP_011531331.1:n.76-5406_76-5404del
XM_011533030.2:c.76-5406_76-5404del	XP_011531332.1:n.76-5406_76-5404del
XR_001738891.1:n.580-5406_580-5404del
XR_939707.2:n.580-5406_580-5404del
NM_022437.3:c.48_50del MANE Select	NP_071882.1:p.Pro17del
NM_001357321.2:c.48_50del	NP_001344250.1:p.Pro17del