Canonical Allele Identifier: CA2695227002

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522137_75522138del , CM000679.2:g.75522137_75522138del	GRCh38
NC_000017.10:g.73518218_73518219del , CM000679.1:g.73518218_73518219del	GRCh37
NC_000017.9:g.71029813_71029814del	NCBI36
NG_013041.1:g.10610_10611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1056_1057del MANE Select	ENSP00000327487.6:p.Arg353GlyfsTer?
ENST00000434205.8:c.753_754del	ENSP00000406559.4:p.Arg252GlyfsTer?
ENST00000545228.3:c.1056_1057del	ENSP00000438169.3:p.Arg353GlyfsTer?
ENST00000579449.2:n.855_856del
ENST00000580013.6:n.1259_1260del
ENST00000679370.1:n.1637_1638del
ENST00000679429.1:c.*514_*515del	ENSP00000505403.1:n.*514_*515del
ENST00000679443.1:n.1125_1126del
ENST00000679782.1:c.1056_1057del	ENSP00000505995.1:p.Arg353GlyfsTer?
ENST00000679919.1:n.1125_1126del
ENST00000679928.1:c.*667_*668del	ENSP00000506071.1:n.*667_*668del
ENST00000680528.1:n.1081_1082del
ENST00000680999.1:c.1056_1057del	ENSP00000504984.1:p.Arg353GlyfsTer?
ENST00000681282.1:c.*302_*303del	ENSP00000506339.1:n.*302_*303del
ENST00000333213.10:c.1056_1057del	ENSP00000327487.6:p.Arg353GlyfsTer?
ENST00000545228.2:c.145_146del
ENST00000583173.5:c.589_590del	ENSP00000463619.1:n.589_590del
NM_207346.2:c.1056_1057del	NP_997229.2:p.Arg353GlyfsTer?
XM_005257229.2:c.1056_1057del	XP_005257286.1:p.Arg353GlyfsTer?
XM_006721821.2:c.753_754del	XP_006721884.1:p.Arg252GlyfsTer?
XM_011524616.1:c.1056_1057del	XP_011522918.1:p.Arg353GlyfsTer?
XM_011524617.1:c.1056_1057del	XP_011522919.1:p.Arg353GlyfsTer?
XM_011524618.1:c.1056_1057del	XP_011522920.1:p.Arg353GlyfsTer?
XR_243646.2:n.1086_1087del
XM_005257229.4:c.1056_1057del	XP_005257286.1:p.Arg353GlyfsTer?
XR_243646.4:n.1092_1093del
NM_207346.3:c.1056_1057del MANE Select	NP_997229.2:p.Arg353GlyfsTer?