Canonical Allele Identifier: CA2749705967

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877761_43877762insTTTTTTTTTTTTT , CM000664.2:g.43877761_43877762insTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.44104900_44104901insTTTTTTTTTTTTT , CM000664.1:g.44104900_44104901insTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.43958404_43958405insTTTTTTTTTTTTT	NCBI36
NG_008884.1:g.43798_43799insTTTTTTTTTTTTT
NG_008884.2:g.50820_50821insTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1885-15_1885-14insTTTTTTTTTTTTT MANE Select	ENSP00000272286.2:n.1885-15_1885-14insTTTTTTTTTTTTT
ENST00000272286.2:c.1885-15_1885-14insTTTTTTTTTTTTT	ENSP00000272286.2:n.1885-15_1885-14insTTTTTTTTTTTTT
NM_022437.2:c.1885-15_1885-14insTTTTTTTTTTTTT	NP_071882.1:n.1885-15_1885-14insTTTTTTTTTTTTT
XM_005264483.2:c.1882-15_1882-14insTTTTTTTTTTTTT	XP_005264540.1:n.1882-15_1882-14insTTTTTTTTTTTTT
XM_011533029.1:c.1897-15_1897-14insTTTTTTTTTTTTT	XP_011531331.1:n.1897-15_1897-14insTTTTTTTTTTTTT
XM_011533030.1:c.1894-15_1894-14insTTTTTTTTTTTTT	XP_011531332.1:n.1894-15_1894-14insTTTTTTTTTTTTT
XM_011533031.1:c.1669-15_1669-14insTTTTTTTTTTTTT	XP_011531333.1:n.1669-15_1669-14insTTTTTTTTTTTTT
XR_939707.1:n.2387-15_2387-14insTTTTTTTTTTTTT
NM_001357321.1:c.1882-15_1882-14insTTTTTTTTTTTTT	NP_001344250.1:n.1882-15_1882-14insTTTTTTTTTTTTT
XM_011533029.2:c.1897-15_1897-14insTTTTTTTTTTTTT	XP_011531331.1:n.1897-15_1897-14insTTTTTTTTTTTTT
XM_011533030.2:c.1894-15_1894-14insTTTTTTTTTTTTT	XP_011531332.1:n.1894-15_1894-14insTTTTTTTTTTTTT
XR_001738891.1:n.2401-15_2401-14insTTTTTTTTTTTTT
XR_939707.2:n.2401-15_2401-14insTTTTTTTTTTTTT
NM_022437.3:c.1885-15_1885-14insTTTTTTTTTTTTT MANE Select	NP_071882.1:n.1885-15_1885-14insTTTTTTTTTTTTT
NM_001357321.2:c.1882-15_1882-14insTTTTTTTTTTTTT	NP_001344250.1:n.1882-15_1882-14insTTTTTTTTTTTTT