Canonical Allele Identifier: CA1291431455
Gene: THSD7B HGNC NCBI

Linked Data

dbSNP Id: rs1688479415

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137118224_137118228del , CM000664.2:g.137118224_137118228del GRCh38
NC_000002.11:g.137875794_137875798del , CM000664.1:g.137875794_137875798del GRCh37
NC_000002.10:g.137592264_137592268del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000409968.6:c.1369+2931_1369+2935del MANE Select ENSP00000387145.1:n.1369+2931_1369+2935del
ENST00000272643.7:c.1369+2931_1369+2935del ENSP00000272643.4:n.1369+2931_1369+2935del
ENST00000409968.5:c.1369+2931_1369+2935del ENSP00000387145.1:n.1369+2931_1369+2935del
ENST00000413152.3:c.1276+2931_1276+2935del ENSP00000413841.3:n.1276+2931_1276+2935del
NM_001080427.1:c.1276+2931_1276+2935del NP_001073896.1:n.1276+2931_1276+2935del
NM_001316349.1:c.1369+2931_1369+2935del NP_001303278.1:n.1369+2931_1369+2935del
NM_001316349.2:c.1369+2931_1369+2935del MANE Select NP_001303278.1:n.1369+2931_1369+2935del