Canonical Allele Identifier: CA2493965032

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877620_43877621delinsAT , CM000664.2:g.43877620_43877621delinsAT	GRCh38
NC_000002.11:g.44104759_44104760delinsAT , CM000664.1:g.44104759_44104760delinsAT	GRCh37
NC_000002.10:g.43958263_43958264delinsAT	NCBI36
NG_008884.1:g.43657_43658delinsAT
NG_008884.2:g.50679_50680delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1816_1817delinsAT MANE Select	ENSP00000272286.2:p.Ile606=
ENST00000272286.2:c.1816_1817delinsAT	ENSP00000272286.2:p.Ile606=
NM_022437.2:c.1816_1817delinsAT	NP_071882.1:p.Ile606=
XM_005264483.2:c.1813_1814delinsAT	XP_005264540.1:p.Ile605=
XM_011533029.1:c.1828_1829delinsAT	XP_011531331.1:p.Ile610=
XM_011533030.1:c.1825_1826delinsAT	XP_011531332.1:p.Ile609=
XM_011533031.1:c.1600_1601delinsAT	XP_011531333.1:p.Ile534=
XR_939707.1:n.2318_2319delinsAT
NM_001357321.1:c.1813_1814delinsAT	NP_001344250.1:p.Ile605=
XM_011533029.2:c.1828_1829delinsAT	XP_011531331.1:p.Ile610=
XM_011533030.2:c.1825_1826delinsAT	XP_011531332.1:p.Ile609=
XR_001738891.1:n.2332_2333delinsAT
XR_939707.2:n.2332_2333delinsAT
NM_022437.3:c.1816_1817delinsAT MANE Select	NP_071882.1:p.Ile606=
NM_001357321.2:c.1813_1814delinsAT	NP_001344250.1:p.Ile605=