Canonical Allele Identifier: CA581998877
Gene: TTPA HGNC NCBI

Linked Data

dbSNP Id: rs1403023147
gnomAD v2: 8-63985442-CACAACTGA-C
gnomAD v3: 8-63072883-CACAACTGA-C
gnomAD v4: 8-63072883-CACAACTGA-C
MyVariant Identifiers: chr8:g.63985443_63985450del (hg19) chr8:g.63072884_63072891del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072886_63072893del , CM000670.2:g.63072886_63072893del GRCh38
NC_000008.10:g.63985445_63985452del , CM000670.1:g.63985445_63985452del GRCh37
NC_000008.9:g.64147999_64148006del NCBI36
NG_016123.1:g.18163_18170del

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.358+44_358+51del MANE Select ENSP00000260116.4:n.358+44_358+51del
ENST00000260116.4:c.358+44_358+51del ENSP00000260116.4:n.358+44_358+51del
ENST00000521138.1:n.232+12927_232+12934del
NM_000370.3:c.358+44_358+51del MANE Select NP_000361.1:n.358+44_358+51del
XM_006716468.2:c.205-8575_205-8568del XP_006716531.1:n.205-8575_205-8568del
XM_006716468.4:c.205-8575_205-8568del XP_006716531.1:n.205-8575_205-8568del
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