Canonical Allele Identifier: CA2580066526

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1705270
• ClinVar RCV Id: RCV002283587

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877829_43877830delinsT , CM000664.2:g.43877829_43877830delinsT	GRCh38
NC_000002.11:g.44104968_44104969delinsT , CM000664.1:g.44104968_44104969delinsT	GRCh37
NC_000002.10:g.43958472_43958473delinsT	NCBI36
NG_008884.1:g.43866_43867delinsT
NG_008884.2:g.50888_50889delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1938_1939delinsT MANE Select	ENSP00000272286.2:p.Val647SerfsTer16
ENST00000272286.2:c.1938_1939delinsT	ENSP00000272286.2:p.Val647SerfsTer16
NM_022437.2:c.1938_1939delinsT	NP_071882.1:p.Val647SerfsTer16
XM_005264483.2:c.1935_1936delinsT	XP_005264540.1:p.Val646SerfsTer16
XM_011533029.1:c.1950_1951delinsT	XP_011531331.1:p.Val651SerfsTer16
XM_011533030.1:c.1947_1948delinsT	XP_011531332.1:p.Val650SerfsTer16
XM_011533031.1:c.1722_1723delinsT	XP_011531333.1:p.Val575SerfsTer16
XR_939707.1:n.2440_2441delinsT
NM_001357321.1:c.1935_1936delinsT	NP_001344250.1:p.Val646SerfsTer16
XM_011533029.2:c.1950_1951delinsT	XP_011531331.1:p.Val651SerfsTer16
XM_011533030.2:c.1947_1948delinsT	XP_011531332.1:p.Val650SerfsTer16
XR_001738891.1:n.2454_2455delinsT
XR_939707.2:n.2454_2455delinsT
NM_022437.3:c.1938_1939delinsT MANE Select	NP_071882.1:p.Val647SerfsTer16
NM_001357321.2:c.1935_1936delinsT	NP_001344250.1:p.Val646SerfsTer16