Canonical Allele Identifier: CA2493963712

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875360_43875363delinsACTC , CM000664.2:g.43875360_43875363delinsACTC	GRCh38
NC_000002.11:g.44102499_44102502delinsACTC , CM000664.1:g.44102499_44102502delinsACTC	GRCh37
NC_000002.10:g.43956003_43956006delinsACTC	NCBI36
NG_008884.1:g.41397_41400delinsACTC
NG_008884.2:g.48419_48422delinsACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1703_1706delinsACTC MANE Select	ENSP00000272286.2:p.Asn568=
ENST00000272286.2:c.1703_1706delinsACTC	ENSP00000272286.2:p.Asn568=
NM_022437.2:c.1703_1706delinsACTC	NP_071882.1:p.Asn568=
XM_005264483.2:c.1700_1703delinsACTC	XP_005264540.1:p.Asn567=
XM_011533029.1:c.1715_1718delinsACTC	XP_011531331.1:p.Asn572=
XM_011533030.1:c.1712_1715delinsACTC	XP_011531332.1:p.Asn571=
XM_011533031.1:c.1487_1490delinsACTC	XP_011531333.1:p.Asn496=
XR_939707.1:n.2205_2208delinsACTC
NM_001357321.1:c.1700_1703delinsACTC	NP_001344250.1:p.Asn567=
XM_011533029.2:c.1715_1718delinsACTC	XP_011531331.1:p.Asn572=
XM_011533030.2:c.1712_1715delinsACTC	XP_011531332.1:p.Asn571=
XR_001738891.1:n.2219_2222delinsACTC
XR_939707.2:n.2219_2222delinsACTC
NM_022437.3:c.1703_1706delinsACTC MANE Select	NP_071882.1:p.Asn568=
NM_001357321.2:c.1700_1703delinsACTC	NP_001344250.1:p.Asn567=