Canonical Allele Identifier: CA1637675

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1597858
• ClinVar RCV Id: RCV002120083 ; RCV003492734 ; RCV003958719
• dbSNP Id: rs767706636
• ExAC: 2:44104770 CAGA / C
• gnomAD v2: 2-44104770-CAGA-C
• gnomAD v3: 2-43877631-CAGA-C
• gnomAD v4: 2-43877631-CAGA-C
• COSMIC: COSM1683846
• MyVariant Identifiers: chr2:g.44104771_44104773del (hg19) ; chr2:g.43877632_43877634del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877636_43877638del , CM000664.2:g.43877636_43877638del	GRCh38
NC_000002.11:g.44104775_44104777del , CM000664.1:g.44104775_44104777del	GRCh37
NC_000002.10:g.43958279_43958281del	NCBI36
NG_008884.1:g.43673_43675del
NG_008884.2:g.50695_50697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1832_1834del MANE Select	ENSP00000272286.2:p.Arg611del
ENST00000272286.2:c.1832_1834del	ENSP00000272286.2:p.Arg611del
NM_022437.2:c.1832_1834del	NP_071882.1:p.Arg611del
XM_005264483.2:c.1829_1831del	XP_005264540.1:p.Arg610del
XM_011533029.1:c.1844_1846del	XP_011531331.1:p.Arg615del
XM_011533030.1:c.1841_1843del	XP_011531332.1:p.Arg614del
XM_011533031.1:c.1616_1618del	XP_011531333.1:p.Arg539del
XR_939707.1:n.2334_2336del
NM_001357321.1:c.1829_1831del	NP_001344250.1:p.Arg610del
XM_011533029.2:c.1844_1846del	XP_011531331.1:p.Arg615del
XM_011533030.2:c.1841_1843del	XP_011531332.1:p.Arg614del
XR_001738891.1:n.2348_2350del
XR_939707.2:n.2348_2350del
NM_022437.3:c.1832_1834del MANE Select	NP_071882.1:p.Arg611del
NM_001357321.2:c.1829_1831del	NP_001344250.1:p.Arg610del