Canonical Allele Identifier: CA2493963717

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875363_43875366delinsCCTT , CM000664.2:g.43875363_43875366delinsCCTT	GRCh38
NC_000002.11:g.44102502_44102505delinsCCTT , CM000664.1:g.44102502_44102505delinsCCTT	GRCh37
NC_000002.10:g.43956006_43956009delinsCCTT	NCBI36
NG_008884.1:g.41400_41403delinsCCTT
NG_008884.2:g.48422_48425delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1706_1709delinsCCTT MANE Select	ENSP00000272286.2:p.Ser569=
ENST00000272286.2:c.1706_1709delinsCCTT	ENSP00000272286.2:p.Ser569=
NM_022437.2:c.1706_1709delinsCCTT	NP_071882.1:p.Ser569=
XM_005264483.2:c.1703_1706delinsCCTT	XP_005264540.1:p.Ser568=
XM_011533029.1:c.1718_1721delinsCCTT	XP_011531331.1:p.Ser573=
XM_011533030.1:c.1715_1718delinsCCTT	XP_011531332.1:p.Ser572=
XM_011533031.1:c.1490_1493delinsCCTT	XP_011531333.1:p.Ser497=
XR_939707.1:n.2208_2211delinsCCTT
NM_001357321.1:c.1703_1706delinsCCTT	NP_001344250.1:p.Ser568=
XM_011533029.2:c.1718_1721delinsCCTT	XP_011531331.1:p.Ser573=
XM_011533030.2:c.1715_1718delinsCCTT	XP_011531332.1:p.Ser572=
XR_001738891.1:n.2222_2225delinsCCTT
XR_939707.2:n.2222_2225delinsCCTT
NM_022437.3:c.1706_1709delinsCCTT MANE Select	NP_071882.1:p.Ser569=
NM_001357321.2:c.1703_1706delinsCCTT	NP_001344250.1:p.Ser568=