Canonical Allele Identifier: CA2338594416

Gene: SIX5

Linked Data

• dbSNP Id: rs1969083016

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766707del , CM000681.2:g.45766707del	GRCh38
NC_000019.9:g.46269965del , CM000681.1:g.46269965del	GRCh37
NC_000019.8:g.50961805del	NCBI36
NG_012745.1:g.7534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1253del MANE Select	ENSP00000316842.4:p.Gly418GlufsTer?
ENST00000317578.6:c.1253del	ENSP00000316842.4:p.Gly418GlufsTer?
ENST00000560160.1:c.587-595del
ENST00000560168.1:c.*441del	ENSP00000453189.2:n.*441del
ENST00000622857.1:c.16-744del	ENSP00000481365.1:n.16-744del
NM_175875.4:c.1253del	NP_787071.2:p.Gly418GlufsTer?
NM_175875.5:c.1253del MANE Select	NP_787071.3:p.Gly418GlufsTer?