Canonical Allele Identifier: CA2639835652

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524188-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524192_75524193del , CM000679.2:g.75524192_75524193del	GRCh38
NC_000017.10:g.73520273_73520274del , CM000679.1:g.73520273_73520274del	GRCh37
NC_000017.9:g.71031868_71031869del	NCBI36
NG_013041.1:g.12665_12666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1431-70_1431-69del MANE Select	ENSP00000327487.6:n.1431-70_1431-69del
ENST00000434205.8:c.1128-70_1128-69del	ENSP00000406559.4:n.1128-70_1128-69del
ENST00000545228.3:c.1619-70_1619-69del	ENSP00000438169.3:n.1619-70_1619-69del
ENST00000577197.2:n.629-70_629-69del
ENST00000579449.2:n.2171-70_2171-69del
ENST00000580013.6:n.2575-70_2575-69del
ENST00000679370.1:n.2953-70_2953-69del
ENST00000679429.1:c.*889-70_*889-69del	ENSP00000505403.1:n.*889-70_*889-69del
ENST00000679443.1:n.1500-70_1500-69del
ENST00000679782.1:c.*130-70_*130-69del	ENSP00000505995.1:n.*130-70_*130-69del
ENST00000679919.1:n.1702-70_1702-69del
ENST00000679928.1:c.*1983-70_*1983-69del	ENSP00000506071.1:n.*1983-70_*1983-69del
ENST00000680528.1:n.2397-70_2397-69del
ENST00000680999.1:c.1644-70_1644-69del	ENSP00000504984.1:n.1644-70_1644-69del
ENST00000681282.1:c.*1618-70_*1618-69del	ENSP00000506339.1:n.*1618-70_*1618-69del
ENST00000333213.10:c.1431-70_1431-69del	ENSP00000327487.6:n.1431-70_1431-69del
ENST00000545228.2:c.708-70_708-69del
ENST00000577197.1:n.179-70_179-69del
ENST00000579449.1:n.628-70_628-69del
NM_207346.2:c.1431-70_1431-69del	NP_997229.2:n.1431-70_1431-69del
XM_005257229.2:c.1619-70_1619-69del	XP_005257286.1:n.1619-70_1619-69del
XM_006721821.2:c.1316-70_1316-69del	XP_006721884.1:n.1316-70_1316-69del
XM_011524616.1:c.1502-70_1502-69del	XP_011522918.1:n.1502-70_1502-69del
XM_011524617.1:c.*13-70_*13-69del	XP_011522919.1:n.*13-70_*13-69del
XM_011524618.1:c.1314-70_1314-69del	XP_011522920.1:n.1314-70_1314-69del
XR_243646.2:n.1663-70_1663-69del
XM_005257229.4:c.1619-70_1619-69del	XP_005257286.1:n.1619-70_1619-69del
XR_001753015.1:n.87+121_87+122del
XR_001753016.1:n.88+121_88+122del
XR_243646.4:n.1669-70_1669-69del
NM_207346.3:c.1431-70_1431-69del MANE Select	NP_997229.2:n.1431-70_1431-69del