Canonical Allele Identifier: CA2692045599
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814283-CCTGGGGGTCACTTACCTACCCTCCCATCCGTCCCACAAACGTCTA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814295_129814339del , CM000671.2:g.129814295_129814339del GRCh38
NC_000009.11:g.132576574_132576618del , CM000671.1:g.132576574_132576618del GRCh37
NC_000009.10:g.131616395_131616439del NCBI36
NG_008049.1:g.14835_14879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-106_749-62del MANE Select ENSP00000345719.4:n.749-106_749-62del
ENST00000651202.1:c.*17-106_*17-62del ENSP00000498222.1:n.*17-106_*17-62del
ENST00000351698.4:c.749-106_749-62del ENSP00000345719.4:n.749-106_749-62del
ENST00000474192.1:n.333-106_333-62del
NM_000113.2:c.749-106_749-62del NP_000104.1:n.749-106_749-62del
XR_929731.1:n.1076-106_1076-62del
XR_929731.3:n.944-106_944-62del
NM_000113.3:c.749-106_749-62del MANE Select NP_000104.1:n.749-106_749-62del
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