Canonical Allele Identifier: CA1637589

Gene: ABCG8

Linked Data

• dbSNP Id: rs768287423
• ExAC: 2:44102484 GC / G
• gnomAD v2: 2-44102484-GC-G
• gnomAD v3: 2-43875345-GC-G
• gnomAD v4: 2-43875345-GC-G
• MyVariant Identifiers: chr2:g.44102485del (hg19) ; chr2:g.43875346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875346del , CM000664.2:g.43875346del	GRCh38
NC_000002.11:g.44102485del , CM000664.1:g.44102485del	GRCh37
NC_000002.10:g.43955989del	NCBI36
NG_008884.1:g.41383del
NG_008884.2:g.48405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1689del MANE Select	ENSP00000272286.2:p.Ser563ArgfsTer15
ENST00000272286.2:c.1689del	ENSP00000272286.2:p.Ser563ArgfsTer15
NM_022437.2:c.1689del	NP_071882.1:p.Ser563ArgfsTer15
XM_005264483.2:c.1686del	XP_005264540.1:p.Ser562ArgfsTer15
XM_011533029.1:c.1701del	XP_011531331.1:p.Ser567ArgfsTer15
XM_011533030.1:c.1698del	XP_011531332.1:p.Ser566ArgfsTer15
XM_011533031.1:c.1473del	XP_011531333.1:p.Ser491ArgfsTer15
XR_939707.1:n.2191del
NM_001357321.1:c.1686del	NP_001344250.1:p.Ser562ArgfsTer15
XM_011533029.2:c.1701del	XP_011531331.1:p.Ser567ArgfsTer15
XM_011533030.2:c.1698del	XP_011531332.1:p.Ser566ArgfsTer15
XR_001738891.1:n.2205del
XR_939707.2:n.2205del
NM_022437.3:c.1689del MANE Select	NP_071882.1:p.Ser563ArgfsTer15
NM_001357321.2:c.1686del	NP_001344250.1:p.Ser562ArgfsTer15