Canonical Allele Identifier: CA602920868

Gene: TSPAN9

Linked Data

• dbSNP Id: rs1491214494
• gnomAD v2: 12-3218492-GTT-G
• gnomAD v3: 12-3109326-GTT-G
• gnomAD v4: 12-3109326-GTT-G
• MyVariant Identifiers: chr12:g.3218493_3218494del (hg19) ; chr12:g.3109327_3109328del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.3109328_3109329del , CM000674.2:g.3109328_3109329del	GRCh38
NC_000012.11:g.3218494_3218495del , CM000674.1:g.3218494_3218495del	GRCh37
NC_000012.10:g.3088755_3088756del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000011898.10:c.-18+25609_-18+25610del MANE Select	ENSP00000011898.5:n.-18+25609_-18+25610del
ENST00000649909.1:c.-130+25609_-130+25610del	ENSP00000497370.1:n.-130+25609_-130+25610del
ENST00000011898.9:c.-18+25609_-18+25610del	ENSP00000011898.5:n.-18+25609_-18+25610del
ENST00000444315.6:c.-18+25609_-18+25610del	ENSP00000412908.2:n.-18+25609_-18+25610del
ENST00000537971.5:c.-18+31875_-18+31876del	ENSP00000444799.1:n.-18+31875_-18+31876del
NM_001168320.1:c.-18+31875_-18+31876del	NP_001161792.1:n.-18+31875_-18+31876del
NM_006675.4:c.-18+25609_-18+25610del	NP_006666.1:n.-18+25609_-18+25610del
XM_011520912.1:c.-349+25609_-349+25610del	XP_011519214.1:n.-349+25609_-349+25610del
XM_011520912.3:c.-349+25609_-349+25610del	XP_011519214.1:n.-349+25609_-349+25610del
NM_006675.5:c.-18+25609_-18+25610del MANE Select	NP_006666.1:n.-18+25609_-18+25610del
NM_001168320.2:c.-18+31875_-18+31876del	NP_001161792.1:n.-18+31875_-18+31876del