Canonical Allele Identifier: CA46475190

Gene: ABCG8

Linked Data

• dbSNP Id: rs886210627
• gnomAD v3: 2-43878151-ACTCGGTGGCAC-A
• gnomAD v4: 2-43878151-ACTCGGTGGCAC-A
• MyVariant Identifiers: chr2:g.44105291_44105301del (hg19) ; chr2:g.43878152_43878162del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878154_43878164del , CM000664.2:g.43878154_43878164del	GRCh38
NC_000002.11:g.44105293_44105303del , CM000664.1:g.44105293_44105303del	GRCh37
NC_000002.10:g.43958797_43958807del	NCBI36
NG_008884.1:g.44191_44201del
NG_008884.2:g.51213_51223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*241_*251del MANE Select	ENSP00000272286.2:n.*241_*251del
ENST00000272286.2:c.*241_*251del	ENSP00000272286.2:n.*241_*251del
NM_022437.2:c.*241_*251del	NP_071882.1:n.*241_*251del
XM_005264483.2:c.*241_*251del	XP_005264540.1:n.*241_*251del
XM_011533029.1:c.*241_*251del	XP_011531331.1:n.*241_*251del
XM_011533030.1:c.*241_*251del	XP_011531332.1:n.*241_*251del
XM_011533031.1:c.*241_*251del	XP_011531333.1:n.*241_*251del
XR_939707.1:n.2765_2775del
NM_001357321.1:c.*241_*251del	NP_001344250.1:n.*241_*251del
XM_011533029.2:c.*241_*251del	XP_011531331.1:n.*241_*251del
XM_011533030.2:c.*241_*251del	XP_011531332.1:n.*241_*251del
XR_001738891.1:n.2779_2789del
XR_939707.2:n.2779_2789del
NM_022437.3:c.*241_*251del MANE Select	NP_071882.1:n.*241_*251del
NM_001357321.2:c.*241_*251del	NP_001344250.1:n.*241_*251del