Canonical Allele Identifier: CA2786061660

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813987del , CM000671.2:g.129813987del	GRCh38
NC_000009.11:g.132576266del , CM000671.1:g.132576266del	GRCh37
NC_000009.10:g.131616087del	NCBI36
NG_008049.1:g.15177del

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.985del MANE Select	ENSP00000345719.4:p.Tyr329ThrfsTer?
ENST00000651202.1:c.*253del	ENSP00000498222.1:n.*253del
ENST00000351698.4:c.985del	ENSP00000345719.4:p.Tyr329ThrfsTer?
ENST00000474192.1:n.569del
NM_000113.2:c.985del	NP_000104.1:p.Tyr329ThrfsTer?
XR_929731.3:n.1180del
NM_000113.3:c.985del MANE Select	NP_000104.1:p.Tyr329ThrfsTer?