Canonical Allele Identifier: CA2692045622
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814325-TCTACTGGGGGTCACCTATCCATGCCACACACAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814341_129814373del , CM000671.2:g.129814341_129814373del GRCh38
NC_000009.11:g.132576620_132576652del , CM000671.1:g.132576620_132576652del GRCh37
NC_000009.10:g.131616441_131616473del NCBI36
NG_008049.1:g.14805_14837del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-136_749-104del MANE Select ENSP00000345719.4:n.749-136_749-104del
ENST00000651202.1:c.*17-136_*17-104del ENSP00000498222.1:n.*17-136_*17-104del
ENST00000351698.4:c.749-136_749-104del ENSP00000345719.4:n.749-136_749-104del
ENST00000474192.1:n.333-136_333-104del
NM_000113.2:c.749-136_749-104del NP_000104.1:n.749-136_749-104del
XR_929731.1:n.1076-136_1076-104del
XR_929731.3:n.944-136_944-104del
NM_000113.3:c.749-136_749-104del MANE Select NP_000104.1:n.749-136_749-104del
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