Canonical Allele Identifier: CA590685012
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1444597383
gnomAD v2: 9-132576231-CCGG-C
gnomAD v4: 9-129813952-CCGG-C
MyVariant Identifiers: chr9:g.132576232_132576234del (hg19) chr9:g.129813953_129813955del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813954_129813956del , CM000671.2:g.129813954_129813956del GRCh38
NC_000009.11:g.132576233_132576235del , CM000671.1:g.132576233_132576235del GRCh37
NC_000009.10:g.131616054_131616056del NCBI36
NG_008049.1:g.15208_15210del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*17_*19del MANE Select ENSP00000345719.4:n.*17_*19del
ENST00000651202.1:c.*284_*286del ENSP00000498222.1:n.*284_*286del
ENST00000351698.4:c.*17_*19del ENSP00000345719.4:n.*17_*19del
ENST00000474192.1:n.600_602del
NM_000113.2:c.*17_*19del NP_000104.1:n.*17_*19del
XR_929731.3:n.1211_1213del
NM_000113.3:c.*17_*19del MANE Select NP_000104.1:n.*17_*19del
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