Canonical Allele Identifier: CA46475101

Gene: ABCG8

Linked Data

• dbSNP Id: rs1015335474
• gnomAD v2: 2-44105175-CG-C
• gnomAD v3: 2-43878036-CG-C
• gnomAD v4: 2-43878036-CG-C
• MyVariant Identifiers: chr2:g.44105176del (hg19) ; chr2:g.43878037del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878038del , CM000664.2:g.43878038del	GRCh38
NC_000002.11:g.44105177del , CM000664.1:g.44105177del	GRCh37
NC_000002.10:g.43958681del	NCBI36
NG_008884.1:g.44075del
NG_008884.2:g.51097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*125del MANE Select	ENSP00000272286.2:n.*125del
ENST00000272286.2:c.*125del	ENSP00000272286.2:n.*125del
NM_022437.2:c.*125del	NP_071882.1:n.*125del
XM_005264483.2:c.*125del	XP_005264540.1:n.*125del
XM_011533029.1:c.*125del	XP_011531331.1:n.*125del
XM_011533030.1:c.*125del	XP_011531332.1:n.*125del
XM_011533031.1:c.*125del	XP_011531333.1:n.*125del
XR_939707.1:n.2649del
NM_001357321.1:c.*125del	NP_001344250.1:n.*125del
XM_011533029.2:c.*125del	XP_011531331.1:n.*125del
XM_011533030.2:c.*125del	XP_011531332.1:n.*125del
XR_001738891.1:n.2663del
XR_939707.2:n.2663del
NM_022437.3:c.*125del MANE Select	NP_071882.1:n.*125del
NM_001357321.2:c.*125del	NP_001344250.1:n.*125del