Canonical Allele Identifier: CA200535227

Gene: TOR1A

Linked Data

• dbSNP Id: rs751816645
• MyVariant Identifiers: chr9:g.132581353_132581356del (hg19) ; chr9:g.129819074_129819077del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819074_129819077del , CM000671.2:g.129819074_129819077del	GRCh38
NC_000009.11:g.132581353_132581356del , CM000671.1:g.132581353_132581356del	GRCh37
NC_000009.10:g.131621174_131621177del	NCBI36
NG_008049.1:g.10086_10089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-157_445-154del MANE Select	ENSP00000345719.4:n.445-157_445-154del
ENST00000651202.1:c.541-157_541-154del	ENSP00000498222.1:n.541-157_541-154del
ENST00000351698.4:c.445-157_445-154del	ENSP00000345719.4:n.445-157_445-154del
ENST00000473604.2:n.555-157_555-154del
NM_000113.2:c.445-157_445-154del	NP_000104.1:n.445-157_445-154del
XR_929731.1:n.605-157_605-154del
XR_929731.3:n.473-157_473-154del
NM_000113.3:c.445-157_445-154del MANE Select	NP_000104.1:n.445-157_445-154del