Canonical Allele Identifier: CA120136
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63065969del
GRCh37 chr8:g.63978528del
gnomAD v2:
8:63978527 CA / C
gnomAD v3:
8:63065968 CA / C
gnomAD v4:
chr8-63065968-CA-C
Joint Max Group AF 0.00004699 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00004438 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63065970del , CM000670.2:g.63065970del GRCh38
NC_000008.10:g.63978529del , CM000670.1:g.63978529del GRCh37
NC_000008.9:g.64141083del NCBI36
NG_016123.1:g.25085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.487del MANE Select ENSP00000260116.4:p.Trp163GlyfsTer13
ENST00000260116.4:c.487del ENSP00000260116.4:p.Trp163GlyfsTer13
ENST00000521138.1:n.233-17366del
NM_000370.3:c.487del MANE Select NP_000361.1:p.Trp163GlyfsTer13
XM_006716468.2:c.205-1653del XP_006716531.1:n.205-1653del
XM_006716468.4:c.205-1653del XP_006716531.1:n.205-1653del
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