Canonical Allele Identifier: CA2551395105
Gene: THSD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397754_52397755del , CM000675.2:g.52397754_52397755del GRCh38
NC_000013.10:g.52971889_52971890del , CM000675.1:g.52971889_52971890del GRCh37
NC_000013.9:g.51869890_51869891del NCBI36
NG_047168.1:g.13740_13741del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.498_499del MANE Select ENSP00000258613.4:p.Val167GlyfsTer10
ENST00000648254.1:c.498_499del ENSP00000497520.1:p.Val167GlyfsTer10
ENST00000258613.4:c.498_499del ENSP00000258613.4:p.Val167GlyfsTer10
ENST00000349258.8:c.498_499del ENSP00000340650.4:p.Val167GlyfsTer10
NM_018676.3:c.498_499del NP_061146.1:p.Val167GlyfsTer10
NM_199263.2:c.498_499del NP_954872.1:p.Val167GlyfsTer10
NM_018676.4:c.498_499del MANE Select NP_061146.1:p.Val167GlyfsTer10
NM_199263.3:c.498_499del NP_954872.1:p.Val167GlyfsTer10
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