Canonical Allele Identifier: CA769083350

Gene: ABCG8

Linked Data

• dbSNP Id: rs1443921776
• gnomAD v3: 2-43878100-AG-A
• gnomAD v4: 2-43878100-AG-A
• MyVariant Identifiers: chr2:g.44105240del (hg19) ; chr2:g.43878101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878103del , CM000664.2:g.43878103del	GRCh38
NC_000002.11:g.44105242del , CM000664.1:g.44105242del	GRCh37
NC_000002.10:g.43958746del	NCBI36
NG_008884.1:g.44140del
NG_008884.2:g.51162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*190del MANE Select	ENSP00000272286.2:n.*190del
ENST00000272286.2:c.*190del	ENSP00000272286.2:n.*190del
NM_022437.2:c.*190del	NP_071882.1:n.*190del
XM_005264483.2:c.*190del	XP_005264540.1:n.*190del
XM_011533029.1:c.*190del	XP_011531331.1:n.*190del
XM_011533030.1:c.*190del	XP_011531332.1:n.*190del
XM_011533031.1:c.*190del	XP_011531333.1:n.*190del
XR_939707.1:n.2714del
NM_001357321.1:c.*190del	NP_001344250.1:n.*190del
XM_011533029.2:c.*190del	XP_011531331.1:n.*190del
XM_011533030.2:c.*190del	XP_011531332.1:n.*190del
XR_001738891.1:n.2728del
XR_939707.2:n.2728del
NM_022437.3:c.*190del MANE Select	NP_071882.1:n.*190del
NM_001357321.2:c.*190del	NP_001344250.1:n.*190del