Canonical Allele Identifier: CA2692045254
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813556-A-AAC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813566_129813567dup , CM000671.2:g.129813566_129813567dup GRCh38
NC_000009.11:g.132575845_132575846dup , CM000671.1:g.132575845_132575846dup GRCh37
NC_000009.10:g.131615666_131615667dup NCBI36
NG_008049.1:g.15605_15606dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*414_*415dup MANE Select ENSP00000345719.4:n.*414_*415dup
ENST00000651202.1:c.*681_*682dup ENSP00000498222.1:n.*681_*682dup
ENST00000351698.4:c.*414_*415dup ENSP00000345719.4:n.*414_*415dup
NM_000113.2:c.*414_*415dup NP_000104.1:n.*414_*415dup
XR_929731.3:n.1608_1609dup
NM_000113.3:c.*414_*415dup MANE Select NP_000104.1:n.*414_*415dup
Search 100 bp 5'
Search 100 bp 3'