Canonical Allele Identifier: CA769091425

Gene: ABCG8

Linked Data

• dbSNP Id: rs1268969238
• MyVariant Identifiers: chr2:g.44104760del (hg19) ; chr2:g.43877621del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877622del , CM000664.2:g.43877622del	GRCh38
NC_000002.11:g.44104761del , CM000664.1:g.44104761del	GRCh37
NC_000002.10:g.43958265del	NCBI36
NG_008884.1:g.43659del
NG_008884.2:g.50681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1818del MANE Select	ENSP00000272286.2:p.Gln607SerfsTer?
ENST00000272286.2:c.1818del	ENSP00000272286.2:p.Gln607SerfsTer?
NM_022437.2:c.1818del	NP_071882.1:p.Gln607SerfsTer?
XM_005264483.2:c.1815del	XP_005264540.1:p.Gln606SerfsTer?
XM_011533029.1:c.1830del	XP_011531331.1:p.Gln611SerfsTer?
XM_011533030.1:c.1827del	XP_011531332.1:p.Gln610SerfsTer?
XM_011533031.1:c.1602del	XP_011531333.1:p.Gln535SerfsTer?
XR_939707.1:n.2320del
NM_001357321.1:c.1815del	NP_001344250.1:p.Gln606SerfsTer?
XM_011533029.2:c.1830del	XP_011531331.1:p.Gln611SerfsTer?
XM_011533030.2:c.1827del	XP_011531332.1:p.Gln610SerfsTer?
XR_001738891.1:n.2334del
XR_939707.2:n.2334del
NM_022437.3:c.1818del MANE Select	NP_071882.1:p.Gln607SerfsTer?
NM_001357321.2:c.1815del	NP_001344250.1:p.Gln606SerfsTer?