Canonical Allele Identifier: CA2572298733
Gene: THSD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397757_52397758insAA , CM000675.2:g.52397757_52397758insAA GRCh38
NC_000013.10:g.52971892_52971893insAA , CM000675.1:g.52971892_52971893insAA GRCh37
NC_000013.9:g.51869893_51869894insAA NCBI36
NG_047168.1:g.13737_13738insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.495_496insTT MANE Select ENSP00000258613.4:p.Val166LeufsTer2
ENST00000648254.1:c.495_496insTT ENSP00000497520.1:p.Val166LeufsTer2
ENST00000258613.4:c.495_496insTT ENSP00000258613.4:p.Val166LeufsTer2
ENST00000349258.8:c.495_496insTT ENSP00000340650.4:p.Val166LeufsTer2
NM_018676.3:c.495_496insTT NP_061146.1:p.Val166LeufsTer2
NM_199263.2:c.495_496insTT NP_954872.1:p.Val166LeufsTer2
NM_018676.4:c.495_496insTT MANE Select NP_061146.1:p.Val166LeufsTer2
NM_199263.3:c.495_496insTT NP_954872.1:p.Val166LeufsTer2
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