Canonical Allele Identifier: CA120134

Gene: TTPA

Linked Data

• ClinVar Variation Id: 9136
• ClinVar RCV Id: RCV000009707 ; RCV000055806 ; RCV001046510
• dbSNP Id: rs397515377
• ExAC: 8:63973903 CT / C
• gnomAD v2: 8-63973903-CT-C
• gnomAD v4: 8-63061344-CT-C
• MyVariant Identifiers: chr8:g.63973904del (hg19) ; chr8:g.63061346del (hg38) ; chr8:g.63061345del (hg38)
• PubMed: PMID:7719340 ; PMID:9463307 ; PMID:20301419 ; PMID:24369383 ; PMID:26068213

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63061346del , CM000670.2:g.63061346del	GRCh38
NC_000008.10:g.63973905del , CM000670.1:g.63973905del	GRCh37
NC_000008.9:g.64136459del	NCBI36
NG_016123.1:g.29709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260116.5:c.744del MANE Select	ENSP00000260116.4:p.Glu249AsnfsTer15
ENST00000260116.4:c.744del	ENSP00000260116.4:p.Glu249AsnfsTer15
ENST00000521138.1:n.233-12742del
NM_000370.3:c.744del MANE Select	NP_000361.1:p.Glu249AsnfsTer15
XM_006716468.2:c.396del	XP_006716531.1:p.Glu133AsnfsTer15
XM_006716468.4:c.396del	XP_006716531.1:p.Glu133AsnfsTer15