Canonical Allele Identifier: CA2585856571

Gene: SIX5

Linked Data

• gnomAD v4: 19-45766714-TGGTCCCGGAGCAGCCACCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766717_45766736del , CM000681.2:g.45766717_45766736del	GRCh38
NC_000019.9:g.46269975_46269994del , CM000681.1:g.46269975_46269994del	GRCh37
NC_000019.8:g.50961815_50961834del	NCBI36
NG_012745.1:g.7506_7525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1225_1244del MANE Select	ENSP00000316842.4:p.Gln409SerfsTer?
ENST00000317578.6:c.1225_1244del	ENSP00000316842.4:p.Gln409SerfsTer?
ENST00000560160.1:c.587-623_587-604del
ENST00000560168.1:c.*413_*432del	ENSP00000453189.2:n.*413_*432del
ENST00000622857.1:c.16-772_16-753del	ENSP00000481365.1:n.16-772_16-753del
NM_175875.4:c.1225_1244del	NP_787071.2:p.Gln409SerfsTer?
NM_175875.5:c.1225_1244del MANE Select	NP_787071.3:p.Gln409SerfsTer?