Canonical Allele Identifier: CA120137

Gene: TTPA

Linked Data

• ClinVar Variation Id: 9139
• ClinVar RCV Id: RCV000009710 ; RCV000055800 ; RCV000993523
• dbSNP Id: rs397515379
• ExAC: 8:63978501 T / TAA
• gnomAD v2: 8-63978501-T-TAA
• gnomAD v3: 8-63065942-T-TAA
• gnomAD v4: 8-63065942-T-TAA
• MyVariant Identifiers: chr8:g.63978501_63978502insAA (hg19) ; chr8:g.63065942_63065943insAA (hg38)
• PubMed: PMID:7719340 ; PMID:8602747 ; PMID:9463307 ; PMID:9588854 ; PMID:11013295 ; PMID:12112220 ; PMID:12470185 ; PMID:15300460 ; PMID:20301419

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.63065942_63065943insAA , CM000670.2:g.63065942_63065943insAA	GRCh38
NC_000008.10:g.63978501_63978502insAA , CM000670.1:g.63978501_63978502insAA	GRCh37
NC_000008.9:g.64141055_64141056insAA	NCBI36
NG_016123.1:g.25111_25112insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260116.5:c.513_514insTT MANE Select	ENSP00000260116.4:p.Thr172LeufsTer5
ENST00000260116.4:c.513_514insTT	ENSP00000260116.4:p.Thr172LeufsTer5
ENST00000521138.1:n.233-17340_233-17339insTT
NM_000370.3:c.513_514insTT MANE Select	NP_000361.1:p.Thr172LeufsTer5
XM_006716468.2:c.205-1627_205-1626insTT	XP_006716531.1:n.205-1627_205-1626insTT
XM_006716468.4:c.205-1627_205-1626insTT	XP_006716531.1:n.205-1627_205-1626insTT