Canonical Allele Identifier: CA2786061676

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814308_129814309insCAAACAC , CM000671.2:g.129814308_129814309insCAAACAC	GRCh38
NC_000009.11:g.132576587_132576588insCAAACAC , CM000671.1:g.132576587_132576588insCAAACAC	GRCh37
NC_000009.10:g.131616408_131616409insCAAACAC	NCBI36
NG_008049.1:g.14855_14856insTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-86_749-85insTGTTTGG MANE Select	ENSP00000345719.4:n.749-86_749-85insTGTTTGG
ENST00000651202.1:c.*17-86_*17-85insTGTTTGG	ENSP00000498222.1:n.*17-86_*17-85insTGTTTGG
ENST00000351698.4:c.749-86_749-85insTGTTTGG	ENSP00000345719.4:n.749-86_749-85insTGTTTGG
ENST00000474192.1:n.333-86_333-85insTGTTTGG
NM_000113.2:c.749-86_749-85insTGTTTGG	NP_000104.1:n.749-86_749-85insTGTTTGG
XR_929731.1:n.1076-86_1076-85insTGTTTGG
XR_929731.3:n.944-86_944-85insTGTTTGG
NM_000113.3:c.749-86_749-85insTGTTTGG MANE Select	NP_000104.1:n.749-86_749-85insTGTTTGG