Canonical Allele Identifier: CA1291431454
Gene: THSD7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137118219_137118224delinsCAAAAT , CM000664.2:g.137118219_137118224delinsCAAAAT GRCh38
NC_000002.11:g.137875789_137875794delinsCAAAAT , CM000664.1:g.137875789_137875794delinsCAAAAT GRCh37
NC_000002.10:g.137592259_137592264delinsCAAAAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.1369+2926_1369+2931delinsCAAAAT MANE Select ENSP00000387145.1:n.1369+2926_1369+2931delinsCAAAAT
ENST00000272643.7:c.1369+2926_1369+2931delinsCAAAAT ENSP00000272643.4:n.1369+2926_1369+2931delinsCAAAAT
ENST00000409968.5:c.1369+2926_1369+2931delinsCAAAAT ENSP00000387145.1:n.1369+2926_1369+2931delinsCAAAAT
ENST00000413152.3:c.1276+2926_1276+2931delinsCAAAAT ENSP00000413841.3:n.1276+2926_1276+2931delinsCAAAAT
NM_001080427.1:c.1276+2926_1276+2931delinsCAAAAT NP_001073896.1:n.1276+2926_1276+2931delinsCAAAAT
NM_001316349.1:c.1369+2926_1369+2931delinsCAAAAT NP_001303278.1:n.1369+2926_1369+2931delinsCAAAAT
NM_001316349.2:c.1369+2926_1369+2931delinsCAAAAT MANE Select NP_001303278.1:n.1369+2926_1369+2931delinsCAAAAT