Canonical Allele Identifier: CA2579478293
Gene: TOR1A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813948_129813951dup , CM000671.2:g.129813948_129813951dup GRCh38
NC_000009.11:g.132576227_132576230dup , CM000671.1:g.132576227_132576230dup GRCh37
NC_000009.10:g.131616048_131616051dup NCBI36
NG_008049.1:g.15213_15216dup

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*22_*25dup MANE Select ENSP00000345719.4:n.*22_*25dup
ENST00000651202.1:c.*289_*292dup ENSP00000498222.1:n.*289_*292dup
ENST00000351698.4:c.*22_*25dup ENSP00000345719.4:n.*22_*25dup
ENST00000474192.1:n.605_608dup
NM_000113.2:c.*22_*25dup NP_000104.1:n.*22_*25dup
XR_929731.3:n.1216_1219dup
NM_000113.3:c.*22_*25dup MANE Select NP_000104.1:n.*22_*25dup
Search 100 bp 5'
Search 100 bp 3'