Canonical Allele Identifier: CA2493965041

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877631_43877634delinsCAGA , CM000664.2:g.43877631_43877634delinsCAGA	GRCh38
NC_000002.11:g.44104770_44104773delinsCAGA , CM000664.1:g.44104770_44104773delinsCAGA	GRCh37
NC_000002.10:g.43958274_43958277delinsCAGA	NCBI36
NG_008884.1:g.43668_43671delinsCAGA
NG_008884.2:g.50690_50693delinsCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1827_1830delinsCAGA MANE Select	ENSP00000272286.2:p.Ser609=
ENST00000272286.2:c.1827_1830delinsCAGA	ENSP00000272286.2:p.Ser609=
NM_022437.2:c.1827_1830delinsCAGA	NP_071882.1:p.Ser609=
XM_005264483.2:c.1824_1827delinsCAGA	XP_005264540.1:p.Ser608=
XM_011533029.1:c.1839_1842delinsCAGA	XP_011531331.1:p.Ser613=
XM_011533030.1:c.1836_1839delinsCAGA	XP_011531332.1:p.Ser612=
XM_011533031.1:c.1611_1614delinsCAGA	XP_011531333.1:p.Ser537=
XR_939707.1:n.2329_2332delinsCAGA
NM_001357321.1:c.1824_1827delinsCAGA	NP_001344250.1:p.Ser608=
XM_011533029.2:c.1839_1842delinsCAGA	XP_011531331.1:p.Ser613=
XM_011533030.2:c.1836_1839delinsCAGA	XP_011531332.1:p.Ser612=
XR_001738891.1:n.2343_2346delinsCAGA
XR_939707.2:n.2343_2346delinsCAGA
NM_022437.3:c.1827_1830delinsCAGA MANE Select	NP_071882.1:p.Ser609=
NM_001357321.2:c.1824_1827delinsCAGA	NP_001344250.1:p.Ser608=