Canonical Allele Identifier: CA2687441785
Gene: TTPA HGNC NCBI

Linked Data

gnomAD v4: 8-63072927-TGAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072928_63072930del , CM000670.2:g.63072928_63072930del GRCh38
NC_000008.10:g.63985487_63985489del , CM000670.1:g.63985487_63985489del GRCh37
NC_000008.9:g.64148041_64148043del NCBI36
NG_016123.1:g.18124_18126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.358+5_358+7del MANE Select ENSP00000260116.4:n.358+5_358+7del
ENST00000260116.4:c.358+5_358+7del ENSP00000260116.4:n.358+5_358+7del
ENST00000521138.1:n.232+12888_232+12890del
NM_000370.3:c.358+5_358+7del MANE Select NP_000361.1:n.358+5_358+7del
XM_006716468.2:c.205-8614_205-8612del XP_006716531.1:n.205-8614_205-8612del
XM_006716468.4:c.205-8614_205-8612del XP_006716531.1:n.205-8614_205-8612del
Search 100 bp 5'
Search 100 bp 3'