Canonical Allele Identifier: CA1637596

Gene: ABCG8

Linked Data

• dbSNP Id: rs776662013
• ExAC: 2:44102499 ACTC / A
• gnomAD v2: 2-44102499-ACTC-A
• gnomAD v3: 2-43875360-ACTC-A
• gnomAD v4: 2-43875360-ACTC-A
• MyVariant Identifiers: chr2:g.44102500_44102502del (hg19) ; chr2:g.43875361_43875363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875363_43875365del , CM000664.2:g.43875363_43875365del	GRCh38
NC_000002.11:g.44102502_44102504del , CM000664.1:g.44102502_44102504del	GRCh37
NC_000002.10:g.43956006_43956008del	NCBI36
NG_008884.1:g.41400_41402del
NG_008884.2:g.48422_48424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1706_1708del MANE Select	ENSP00000272286.2:p.Ser569del
ENST00000272286.2:c.1706_1708del	ENSP00000272286.2:p.Ser569del
NM_022437.2:c.1706_1708del	NP_071882.1:p.Ser569del
XM_005264483.2:c.1703_1705del	XP_005264540.1:p.Ser568del
XM_011533029.1:c.1718_1720del	XP_011531331.1:p.Ser573del
XM_011533030.1:c.1715_1717del	XP_011531332.1:p.Ser572del
XM_011533031.1:c.1490_1492del	XP_011531333.1:p.Ser497del
XR_939707.1:n.2208_2210del
NM_001357321.1:c.1703_1705del	NP_001344250.1:p.Ser568del
XM_011533029.2:c.1718_1720del	XP_011531331.1:p.Ser573del
XM_011533030.2:c.1715_1717del	XP_011531332.1:p.Ser572del
XR_001738891.1:n.2222_2224del
XR_939707.2:n.2222_2224del
NM_022437.3:c.1706_1708del MANE Select	NP_071882.1:p.Ser569del
NM_001357321.2:c.1703_1705del	NP_001344250.1:p.Ser568del