Canonical Allele Identifier: CA2580095219
Community Standard Title: NM_207346.3(TSEN54):c.1309_1310delinsAT (p.Ala437Ile)
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75523331_75523332delinsAT , CM000679.2:g.75523331_75523332delinsAT GRCh38
NC_000017.10:g.73519412_73519413delinsAT , CM000679.1:g.73519412_73519413delinsAT GRCh37
NC_000017.9:g.71031007_71031008delinsAT NCBI36
NG_013041.1:g.11804_11805delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_207346.3:c.1309_1310delinsAT MANE Select NP_997229.2:p.Ala437Ile
ENST00000333213.11:c.1309_1310delinsAT MANE Select ENSP00000327487.6:p.Ala437Ile
NM_207346.2:c.1309_1310delinsAT NP_997229.2:p.Ala437Ile
ENST00000333213.10:c.1309_1310delinsAT ENSP00000327487.6:p.Ala437Ile
ENST00000434205.8:c.1006_1007delinsAT ENSP00000406559.4:p.Ala336Ile
ENST00000545228.2:c.586_587delinsAT
ENST00000545228.3:c.1497_1498delinsAT ENSP00000438169.3:p.Pro500Ser
ENST00000577197.2:n.180_181delinsAT
ENST00000579449.1:n.506_507delinsAT
ENST00000579449.2:n.2049_2050delinsAT
ENST00000580013.6:n.2453_2454delinsAT
ENST00000679370.1:n.2831_2832delinsAT
ENST00000679429.1:c.*767_*768delinsAT ENSP00000505403.1:n.*767_*768delinsAT
ENST00000679443.1:n.1378_1379delinsAT
ENST00000679782.1:c.*8_*9delinsAT ENSP00000505995.1:n.*8_*9delinsAT
ENST00000679919.1:n.1580_1581delinsAT
ENST00000679928.1:c.*1861_*1862delinsAT ENSP00000506071.1:n.*1861_*1862delinsAT
ENST00000680528.1:n.2275_2276delinsAT
ENST00000680999.1:c.1522_1523delinsAT ENSP00000504984.1:p.Ala508Ile
ENST00000681282.1:c.*1496_*1497delinsAT ENSP00000506339.1:n.*1496_*1497delinsAT
XM_005257229.2:c.1497_1498delinsAT XP_005257286.1:p.Pro500Ser
XM_005257229.4:c.1497_1498delinsAT XP_005257286.1:p.Pro500Ser
XM_006721821.2:c.1194_1195delinsAT XP_006721884.1:p.Pro399Ser
XM_011524616.1:c.1497_1498delinsAT XP_011522918.1:p.Pro500Ser
XM_011524617.1:c.*8_*9delinsAT XP_011522919.1:n.*8_*9delinsAT
XM_011524618.1:c.1309_1310delinsAT XP_011522920.1:p.Ala437Ile
XR_001753015.1:n.124_125delinsAT
XR_001753016.1:n.161_162delinsAT
XR_243646.2:n.1541_1542delinsAT
XR_243646.4:n.1547_1548delinsAT