Canonical Allele Identifier: CA1880970940

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813671_129813672delinsGA , CM000671.2:g.129813671_129813672delinsGA	GRCh38
NC_000009.11:g.132575950_132575951delinsGA , CM000671.1:g.132575950_132575951delinsGA	GRCh37
NC_000009.10:g.131615771_131615772delinsGA	NCBI36
NG_008049.1:g.15491_15492delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.*300_*301delinsTC MANE Select	ENSP00000345719.4:n.*300_*301delinsTC
ENST00000651202.1:c.*567_*568delinsTC	ENSP00000498222.1:n.*567_*568delinsTC
ENST00000351698.4:c.*300_*301delinsTC	ENSP00000345719.4:n.*300_*301delinsTC
ENST00000474192.1:n.883_884delinsTC
NM_000113.2:c.*300_*301delinsTC	NP_000104.1:n.*300_*301delinsTC
XR_929731.3:n.1494_1495delinsTC
NM_000113.3:c.*300_*301delinsTC MANE Select	NP_000104.1:n.*300_*301delinsTC