Canonical Allele Identifier: CA882760416

Gene: SIX5

Linked Data

• dbSNP Id: rs1434151238
• MyVariant Identifiers: chr19:g.46269967_46269968insG (hg19) ; chr19:g.45766709_45766710insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766712dup , CM000681.2:g.45766712dup	GRCh38
NC_000019.9:g.46269970dup , CM000681.1:g.46269970dup	GRCh37
NC_000019.8:g.50961810dup	NCBI36
NG_012745.1:g.7530dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1249dup MANE Select	ENSP00000316842.4:p.Leu417ProfsTer?
ENST00000317578.6:c.1249dup	ENSP00000316842.4:p.Leu417ProfsTer?
ENST00000560160.1:c.587-599dup
ENST00000560168.1:c.*437dup	ENSP00000453189.2:n.*437dup
ENST00000622857.1:c.16-748dup	ENSP00000481365.1:n.16-748dup
NM_175875.4:c.1249dup	NP_787071.2:p.Leu417ProfsTer?
NM_175875.5:c.1249dup MANE Select	NP_787071.3:p.Leu417ProfsTer?