Canonical Allele Identifier: CA148279

Gene: TSPAN7

Linked Data

• ClinVar Variation Id: 95155
• ClinVar RCV Id: RCV000081161 ; RCV001839877
• dbSNP Id: rs398124180
• ExAC: X:38420765 TGCC / T
• gnomAD v2: X-38420765-TGCC-T
• gnomAD v3: X-38561512-TGCC-T
• gnomAD v4: X-38561512-TGCC-T
• MyVariant Identifiers: chrX:g.38420785_38420787del (hg19) ; chrX:g.38420769_38420771del (hg19) ; chrX:g.38420766_38420768del (hg19) ; chrX:g.38420785_38420787delCCG (hg19) ; chrX:g.38561532_38561534del (hg38) ; chrX:g.38561516_38561518del (hg38) ; chrX:g.38561513_38561515del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38561532_38561534del , CM000685.2:g.38561532_38561534del	GRCh38
NC_000023.10:g.38420785_38420787del , CM000685.1:g.38420785_38420787del	GRCh37
NC_000023.9:g.38305729_38305731del	NCBI36
NG_009160.1:g.5055_5057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.6:c.-15_-13del	ENSP00000367743.2:n.-15_-13del
ENST00000465127.1:c.172-104589_172-104587del	ENSP00000417050.1:n.172-104589_172-104587del
NM_004615.3:c.-15_-13del	NP_004606.2:n.-15_-13del