Canonical Allele Identifier: CA2576388979

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522185_75522203del , CM000679.2:g.75522185_75522203del	GRCh38
NC_000017.10:g.73518266_73518284del , CM000679.1:g.73518266_73518284del	GRCh37
NC_000017.9:g.71029861_71029879del	NCBI36
NG_013041.1:g.10658_10676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1104_1122del MANE Select	ENSP00000327487.6:p.Asp369AlafsTer?
ENST00000434205.8:c.801_819del	ENSP00000406559.4:p.Asp268AlafsTer?
ENST00000545228.3:c.1104_1122del	ENSP00000438169.3:p.Asp369AlafsTer?
ENST00000579449.2:n.903_921del
ENST00000580013.6:n.1307_1325del
ENST00000679370.1:n.1685_1703del
ENST00000679429.1:c.*562_*580del	ENSP00000505403.1:n.*562_*580del
ENST00000679443.1:n.1173_1191del
ENST00000679782.1:c.1104_1122del	ENSP00000505995.1:p.Asp369AlafsTer?
ENST00000679919.1:n.1173_1191del
ENST00000679928.1:c.*715_*733del	ENSP00000506071.1:n.*715_*733del
ENST00000680528.1:n.1129_1147del
ENST00000680999.1:c.1104_1122del	ENSP00000504984.1:p.Asp369AlafsTer?
ENST00000681282.1:c.*350_*368del	ENSP00000506339.1:n.*350_*368del
ENST00000333213.10:c.1104_1122del	ENSP00000327487.6:p.Asp369AlafsTer?
ENST00000545228.2:c.193_211del
ENST00000583173.5:c.637_655del	ENSP00000463619.1:n.637_655del
NM_207346.2:c.1104_1122del	NP_997229.2:p.Asp369AlafsTer?
XM_005257229.2:c.1104_1122del	XP_005257286.1:p.Asp369AlafsTer?
XM_006721821.2:c.801_819del	XP_006721884.1:p.Asp268AlafsTer?
XM_011524616.1:c.1104_1122del	XP_011522918.1:p.Asp369AlafsTer?
XM_011524617.1:c.1104_1122del	XP_011522919.1:p.Asp369AlafsTer?
XM_011524618.1:c.1104_1122del	XP_011522920.1:p.Asp369AlafsTer?
XR_243646.2:n.1134_1152del
XM_005257229.4:c.1104_1122del	XP_005257286.1:p.Asp369AlafsTer?
XR_243646.4:n.1140_1158del
NM_207346.3:c.1104_1122del MANE Select	NP_997229.2:p.Asp369AlafsTer?