Canonical Allele Identifier: CA1880971573

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814046_129814047delinsTG , CM000671.2:g.129814046_129814047delinsTG	GRCh38
NC_000009.11:g.132576325_132576326delinsTG , CM000671.1:g.132576325_132576326delinsTG	GRCh37
NC_000009.10:g.131616146_131616147delinsTG	NCBI36
NG_008049.1:g.15116_15117delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.924_925delinsCA MANE Select	ENSP00000345719.4:p.Pro308=
ENST00000651202.1:c.*192_*193delinsCA	ENSP00000498222.1:n.*192_*193delinsCA
ENST00000351698.4:c.924_925delinsCA	ENSP00000345719.4:p.Pro308=
ENST00000474192.1:n.508_509delinsCA
NM_000113.2:c.924_925delinsCA	NP_000104.1:p.Pro308=
XR_929731.1:n.1251_1252delinsCA
XR_929731.3:n.1119_1120delinsCA
NM_000113.3:c.924_925delinsCA MANE Select	NP_000104.1:p.Pro308=