Canonical Allele Identifier: CA2493964847

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877283_43877285delinsCTG , CM000664.2:g.43877283_43877285delinsCTG	GRCh38
NC_000002.11:g.44104422_44104424delinsCTG , CM000664.1:g.44104422_44104424delinsCTG	GRCh37
NC_000002.10:g.43957926_43957928delinsCTG	NCBI36
NG_008884.1:g.43320_43322delinsCTG
NG_008884.2:g.50342_50344delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-278_1757-276delinsCTG MANE Select	ENSP00000272286.2:n.1757-278_1757-276delinsCTG
ENST00000272286.2:c.1757-278_1757-276delinsCTG	ENSP00000272286.2:n.1757-278_1757-276delinsCTG
NM_022437.2:c.1757-278_1757-276delinsCTG	NP_071882.1:n.1757-278_1757-276delinsCTG
XM_005264483.2:c.1754-278_1754-276delinsCTG	XP_005264540.1:n.1754-278_1754-276delinsCTG
XM_011533029.1:c.1769-278_1769-276delinsCTG	XP_011531331.1:n.1769-278_1769-276delinsCTG
XM_011533030.1:c.1766-278_1766-276delinsCTG	XP_011531332.1:n.1766-278_1766-276delinsCTG
XM_011533031.1:c.1541-278_1541-276delinsCTG	XP_011531333.1:n.1541-278_1541-276delinsCTG
XR_939707.1:n.2259-278_2259-276delinsCTG
NM_001357321.1:c.1754-278_1754-276delinsCTG	NP_001344250.1:n.1754-278_1754-276delinsCTG
XM_011533029.2:c.1769-278_1769-276delinsCTG	XP_011531331.1:n.1769-278_1769-276delinsCTG
XM_011533030.2:c.1766-278_1766-276delinsCTG	XP_011531332.1:n.1766-278_1766-276delinsCTG
XR_001738891.1:n.2273-278_2273-276delinsCTG
XR_939707.2:n.2273-278_2273-276delinsCTG
NM_022437.3:c.1757-278_1757-276delinsCTG MANE Select	NP_071882.1:n.1757-278_1757-276delinsCTG
NM_001357321.2:c.1754-278_1754-276delinsCTG	NP_001344250.1:n.1754-278_1754-276delinsCTG