Canonical Allele Identifier: CA698994174

Gene: THSD1

Linked Data

• dbSNP Id: rs1469159630
• MyVariant Identifiers: chr13:g.52971984_52971986del (hg19) ; chr13:g.52397849_52397851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52397849_52397851del , CM000675.2:g.52397849_52397851del	GRCh38
NC_000013.10:g.52971984_52971986del , CM000675.1:g.52971984_52971986del	GRCh37
NC_000013.9:g.51869985_51869987del	NCBI36
NG_047168.1:g.13644_13646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258613.5:c.402_404del MANE Select	ENSP00000258613.4:p.Leu134_Asn135delinsPhe
ENST00000648254.1:c.402_404del	ENSP00000497520.1:p.Leu134_Asn135delinsPhe
ENST00000258613.4:c.402_404del	ENSP00000258613.4:p.Leu134_Asn135delinsPhe
ENST00000349258.8:c.402_404del	ENSP00000340650.4:p.Leu134_Asn135delinsPhe
NM_018676.3:c.402_404del	NP_061146.1:p.Leu134_Asn135delinsPhe
NM_199263.2:c.402_404del	NP_954872.1:p.Leu134_Asn135delinsPhe
NM_018676.4:c.402_404del MANE Select	NP_061146.1:p.Leu134_Asn135delinsPhe
NM_199263.3:c.402_404del	NP_954872.1:p.Leu134_Asn135delinsPhe