Canonical Allele Identifier: CA582403838
Gene: TTPA HGNC NCBI

Linked Data

dbSNP Id: rs1375548971
gnomAD v2: 8-63973802-CAT-C
gnomAD v3: 8-63061243-CAT-C
gnomAD v4: 8-63061243-CAT-C
MyVariant Identifiers: chr8:g.63973803_63973804del (hg19) chr8:g.63061244_63061245del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63061245_63061246del , CM000670.2:g.63061245_63061246del GRCh38
NC_000008.10:g.63973804_63973805del , CM000670.1:g.63973804_63973805del GRCh37
NC_000008.9:g.64136358_64136359del NCBI36
NG_016123.1:g.29809_29810del

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.*7_*8del MANE Select ENSP00000260116.4:n.*7_*8del
ENST00000260116.4:c.*7_*8del ENSP00000260116.4:n.*7_*8del
ENST00000521138.1:n.233-12642_233-12641del
NM_000370.3:c.*7_*8del MANE Select NP_000361.1:n.*7_*8del
XM_006716468.2:c.*7_*8del XP_006716531.1:n.*7_*8del
XM_006716468.4:c.*7_*8del XP_006716531.1:n.*7_*8del
Search 100 bp 5'
Search 100 bp 3'