Canonical Allele Identifier: CA536138750

Gene: THSD7B

Linked Data

• dbSNP Id: rs1433225314
• gnomAD v2: 2-137875860-G-GT
• gnomAD v3: 2-137118290-G-GT
• gnomAD v4: 2-137118290-G-GT
• MyVariant Identifiers: chr2:g.137875860_137875861insT (hg19) ; chr2:g.137118290_137118291insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137118293dup , CM000664.2:g.137118293dup	GRCh38
NC_000002.11:g.137875863dup , CM000664.1:g.137875863dup	GRCh37
NC_000002.10:g.137592333dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409968.6:c.1369+3000dup MANE Select	ENSP00000387145.1:n.1369+3000dup
ENST00000272643.7:c.1369+3000dup	ENSP00000272643.4:n.1369+3000dup
ENST00000409968.5:c.1369+3000dup	ENSP00000387145.1:n.1369+3000dup
ENST00000413152.3:c.1276+3000dup	ENSP00000413841.3:n.1276+3000dup
NM_001080427.1:c.1276+3000dup	NP_001073896.1:n.1276+3000dup
NM_001316349.1:c.1369+3000dup	NP_001303278.1:n.1369+3000dup
NM_001316349.2:c.1369+3000dup MANE Select	NP_001303278.1:n.1369+3000dup