Canonical Allele Identifier: CA2493965038

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877629_43877630delinsAG , CM000664.2:g.43877629_43877630delinsAG	GRCh38
NC_000002.11:g.44104768_44104769delinsAG , CM000664.1:g.44104768_44104769delinsAG	GRCh37
NC_000002.10:g.43958272_43958273delinsAG	NCBI36
NG_008884.1:g.43666_43667delinsAG
NG_008884.2:g.50688_50689delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1825_1826delinsAG MANE Select	ENSP00000272286.2:p.Ser609=
ENST00000272286.2:c.1825_1826delinsAG	ENSP00000272286.2:p.Ser609=
NM_022437.2:c.1825_1826delinsAG	NP_071882.1:p.Ser609=
XM_005264483.2:c.1822_1823delinsAG	XP_005264540.1:p.Ser608=
XM_011533029.1:c.1837_1838delinsAG	XP_011531331.1:p.Ser613=
XM_011533030.1:c.1834_1835delinsAG	XP_011531332.1:p.Ser612=
XM_011533031.1:c.1609_1610delinsAG	XP_011531333.1:p.Ser537=
XR_939707.1:n.2327_2328delinsAG
NM_001357321.1:c.1822_1823delinsAG	NP_001344250.1:p.Ser608=
XM_011533029.2:c.1837_1838delinsAG	XP_011531331.1:p.Ser613=
XM_011533030.2:c.1834_1835delinsAG	XP_011531332.1:p.Ser612=
XR_001738891.1:n.2341_2342delinsAG
XR_939707.2:n.2341_2342delinsAG
NM_022437.3:c.1825_1826delinsAG MANE Select	NP_071882.1:p.Ser609=
NM_001357321.2:c.1822_1823delinsAG	NP_001344250.1:p.Ser608=