Canonical Allele Identifier: CA2786061677

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814307_129814308insAAACACACCCAACA , CM000671.2:g.129814307_129814308insAAACACACCCAACA	GRCh38
NC_000009.11:g.132576586_132576587insAAACACACCCAACA , CM000671.1:g.132576586_132576587insAAACACACCCAACA	GRCh37
NC_000009.10:g.131616407_131616408insAAACACACCCAACA	NCBI36
NG_008049.1:g.14855_14856insTGTTGGGTGTGTTT

Transcript Alleles

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