Canonical Allele Identifier: CA590684972
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs538177206
gnomAD v2: 9-132575835-AAC-A
gnomAD v3: 9-129813556-AAC-A
gnomAD v4: 9-129813556-AAC-A
MyVariant Identifiers: chr9:g.132575838_132575839del (hg19) chr9:g.129813559_129813560del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813566_129813567del , CM000671.2:g.129813566_129813567del GRCh38
NC_000009.11:g.132575845_132575846del , CM000671.1:g.132575845_132575846del GRCh37
NC_000009.10:g.131615666_131615667del NCBI36
NG_008049.1:g.15605_15606del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*414_*415del MANE Select ENSP00000345719.4:n.*414_*415del
ENST00000651202.1:c.*681_*682del ENSP00000498222.1:n.*681_*682del
ENST00000351698.4:c.*414_*415del ENSP00000345719.4:n.*414_*415del
NM_000113.2:c.*414_*415del NP_000104.1:n.*414_*415del
XR_929731.3:n.1608_1609del
NM_000113.3:c.*414_*415del MANE Select NP_000104.1:n.*414_*415del
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