Canonical Allele Identifier: CA1291431577
Gene: THSD7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137118473_137118474delinsAG , CM000664.2:g.137118473_137118474delinsAG GRCh38
NC_000002.11:g.137876043_137876044delinsAG , CM000664.1:g.137876043_137876044delinsAG GRCh37
NC_000002.10:g.137592513_137592514delinsAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.1369+3180_1369+3181delinsAG MANE Select ENSP00000387145.1:n.1369+3180_1369+3181delinsAG
ENST00000272643.7:c.1369+3180_1369+3181delinsAG ENSP00000272643.4:n.1369+3180_1369+3181delinsAG
ENST00000409968.5:c.1369+3180_1369+3181delinsAG ENSP00000387145.1:n.1369+3180_1369+3181delinsAG
ENST00000413152.3:c.1276+3180_1276+3181delinsAG ENSP00000413841.3:n.1276+3180_1276+3181delinsAG
NM_001080427.1:c.1276+3180_1276+3181delinsAG NP_001073896.1:n.1276+3180_1276+3181delinsAG
NM_001316349.1:c.1369+3180_1369+3181delinsAG NP_001303278.1:n.1369+3180_1369+3181delinsAG
NM_001316349.2:c.1369+3180_1369+3181delinsAG MANE Select NP_001303278.1:n.1369+3180_1369+3181delinsAG