Canonical Allele Identifier: CA2639835705

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524216-GGAGTGGGCTAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524218_75524228del , CM000679.2:g.75524218_75524228del	GRCh38
NC_000017.10:g.73520299_73520309del , CM000679.1:g.73520299_73520309del	GRCh37
NC_000017.9:g.71031894_71031904del	NCBI36
NG_013041.1:g.12691_12701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1431-44_1431-34del MANE Select	ENSP00000327487.6:n.1431-44_1431-34del
ENST00000434205.8:c.1128-44_1128-34del	ENSP00000406559.4:n.1128-44_1128-34del
ENST00000545228.3:c.1619-44_1619-34del	ENSP00000438169.3:n.1619-44_1619-34del
ENST00000577197.2:n.629-44_629-34del
ENST00000579449.2:n.2171-44_2171-34del
ENST00000580013.6:n.2575-44_2575-34del
ENST00000679370.1:n.2953-44_2953-34del
ENST00000679429.1:c.*889-44_*889-34del	ENSP00000505403.1:n.*889-44_*889-34del
ENST00000679443.1:n.1500-44_1500-34del
ENST00000679782.1:c.*130-44_*130-34del	ENSP00000505995.1:n.*130-44_*130-34del
ENST00000679919.1:n.1702-44_1702-34del
ENST00000679928.1:c.*1983-44_*1983-34del	ENSP00000506071.1:n.*1983-44_*1983-34del
ENST00000680528.1:n.2397-44_2397-34del
ENST00000680999.1:c.1644-44_1644-34del	ENSP00000504984.1:n.1644-44_1644-34del
ENST00000681282.1:c.*1618-44_*1618-34del	ENSP00000506339.1:n.*1618-44_*1618-34del
ENST00000333213.10:c.1431-44_1431-34del	ENSP00000327487.6:n.1431-44_1431-34del
ENST00000545228.2:c.708-44_708-34del
ENST00000577197.1:n.179-44_179-34del
ENST00000579449.1:n.628-44_628-34del
NM_207346.2:c.1431-44_1431-34del	NP_997229.2:n.1431-44_1431-34del
XM_005257229.2:c.1619-44_1619-34del	XP_005257286.1:n.1619-44_1619-34del
XM_006721821.2:c.1316-44_1316-34del	XP_006721884.1:n.1316-44_1316-34del
XM_011524616.1:c.1502-44_1502-34del	XP_011522918.1:n.1502-44_1502-34del
XM_011524617.1:c.*13-44_*13-34del	XP_011522919.1:n.*13-44_*13-34del
XM_011524618.1:c.1314-44_1314-34del	XP_011522920.1:n.1314-44_1314-34del
XR_243646.2:n.1663-44_1663-34del
XM_005257229.4:c.1619-44_1619-34del	XP_005257286.1:n.1619-44_1619-34del
XR_001753015.1:n.87+84_87+94del
XR_001753016.1:n.88+84_88+94del
XR_243646.4:n.1669-44_1669-34del
NM_207346.3:c.1431-44_1431-34del MANE Select	NP_997229.2:n.1431-44_1431-34del