Canonical Allele Identifier: CA1880970869

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813593_129813595delinsGTC , CM000671.2:g.129813593_129813595delinsGTC	GRCh38
NC_000009.11:g.132575872_132575874delinsGTC , CM000671.1:g.132575872_132575874delinsGTC	GRCh37
NC_000009.10:g.131615693_131615695delinsGTC	NCBI36
NG_008049.1:g.15568_15570delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.*377_*379delinsGAC MANE Select	ENSP00000345719.4:n.*377_*379delinsGAC
ENST00000651202.1:c.*644_*646delinsGAC	ENSP00000498222.1:n.*644_*646delinsGAC
ENST00000351698.4:c.*377_*379delinsGAC	ENSP00000345719.4:n.*377_*379delinsGAC
NM_000113.2:c.*377_*379delinsGAC	NP_000104.1:n.*377_*379delinsGAC
XR_929731.3:n.1571_1573delinsGAC
NM_000113.3:c.*377_*379delinsGAC MANE Select	NP_000104.1:n.*377_*379delinsGAC