Canonical Allele Identifier: CA1291431487

Gene: THSD7B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137118286_137118287delinsCT , CM000664.2:g.137118286_137118287delinsCT	GRCh38
NC_000002.11:g.137875856_137875857delinsCT , CM000664.1:g.137875856_137875857delinsCT	GRCh37
NC_000002.10:g.137592326_137592327delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409968.6:c.1369+2993_1369+2994delinsCT MANE Select	ENSP00000387145.1:n.1369+2993_1369+2994delinsCT
ENST00000272643.7:c.1369+2993_1369+2994delinsCT	ENSP00000272643.4:n.1369+2993_1369+2994delinsCT
ENST00000409968.5:c.1369+2993_1369+2994delinsCT	ENSP00000387145.1:n.1369+2993_1369+2994delinsCT
ENST00000413152.3:c.1276+2993_1276+2994delinsCT	ENSP00000413841.3:n.1276+2993_1276+2994delinsCT
NM_001080427.1:c.1276+2993_1276+2994delinsCT	NP_001073896.1:n.1276+2993_1276+2994delinsCT
NM_001316349.1:c.1369+2993_1369+2994delinsCT	NP_001303278.1:n.1369+2993_1369+2994delinsCT
NM_001316349.2:c.1369+2993_1369+2994delinsCT MANE Select	NP_001303278.1:n.1369+2993_1369+2994delinsCT