Canonical Allele Identifier: CA2493964860

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877302_43877306delinsCTGTG , CM000664.2:g.43877302_43877306delinsCTGTG	GRCh38
NC_000002.11:g.44104441_44104445delinsCTGTG , CM000664.1:g.44104441_44104445delinsCTGTG	GRCh37
NC_000002.10:g.43957945_43957949delinsCTGTG	NCBI36
NG_008884.1:g.43339_43343delinsCTGTG
NG_008884.2:g.50361_50365delinsCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-259_1757-255delinsCTGTG MANE Select	ENSP00000272286.2:n.1757-259_1757-255delinsCTGTG
ENST00000272286.2:c.1757-259_1757-255delinsCTGTG	ENSP00000272286.2:n.1757-259_1757-255delinsCTGTG
NM_022437.2:c.1757-259_1757-255delinsCTGTG	NP_071882.1:n.1757-259_1757-255delinsCTGTG
XM_005264483.2:c.1754-259_1754-255delinsCTGTG	XP_005264540.1:n.1754-259_1754-255delinsCTGTG
XM_011533029.1:c.1769-259_1769-255delinsCTGTG	XP_011531331.1:n.1769-259_1769-255delinsCTGTG
XM_011533030.1:c.1766-259_1766-255delinsCTGTG	XP_011531332.1:n.1766-259_1766-255delinsCTGTG
XM_011533031.1:c.1541-259_1541-255delinsCTGTG	XP_011531333.1:n.1541-259_1541-255delinsCTGTG
XR_939707.1:n.2259-259_2259-255delinsCTGTG
NM_001357321.1:c.1754-259_1754-255delinsCTGTG	NP_001344250.1:n.1754-259_1754-255delinsCTGTG
XM_011533029.2:c.1769-259_1769-255delinsCTGTG	XP_011531331.1:n.1769-259_1769-255delinsCTGTG
XM_011533030.2:c.1766-259_1766-255delinsCTGTG	XP_011531332.1:n.1766-259_1766-255delinsCTGTG
XR_001738891.1:n.2273-259_2273-255delinsCTGTG
XR_939707.2:n.2273-259_2273-255delinsCTGTG
NM_022437.3:c.1757-259_1757-255delinsCTGTG MANE Select	NP_071882.1:n.1757-259_1757-255delinsCTGTG
NM_001357321.2:c.1754-259_1754-255delinsCTGTG	NP_001344250.1:n.1754-259_1754-255delinsCTGTG