Canonical Allele Identifier: CA2639835653

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524188-ATCTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524194_75524198del , CM000679.2:g.75524194_75524198del	GRCh38
NC_000017.10:g.73520275_73520279del , CM000679.1:g.73520275_73520279del	GRCh37
NC_000017.9:g.71031870_71031874del	NCBI36
NG_013041.1:g.12667_12671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1431-68_1431-64del MANE Select	ENSP00000327487.6:n.1431-68_1431-64del
ENST00000434205.8:c.1128-68_1128-64del	ENSP00000406559.4:n.1128-68_1128-64del
ENST00000545228.3:c.1619-68_1619-64del	ENSP00000438169.3:n.1619-68_1619-64del
ENST00000577197.2:n.629-68_629-64del
ENST00000579449.2:n.2171-68_2171-64del
ENST00000580013.6:n.2575-68_2575-64del
ENST00000679370.1:n.2953-68_2953-64del
ENST00000679429.1:c.*889-68_*889-64del	ENSP00000505403.1:n.*889-68_*889-64del
ENST00000679443.1:n.1500-68_1500-64del
ENST00000679782.1:c.*130-68_*130-64del	ENSP00000505995.1:n.*130-68_*130-64del
ENST00000679919.1:n.1702-68_1702-64del
ENST00000679928.1:c.*1983-68_*1983-64del	ENSP00000506071.1:n.*1983-68_*1983-64del
ENST00000680528.1:n.2397-68_2397-64del
ENST00000680999.1:c.1644-68_1644-64del	ENSP00000504984.1:n.1644-68_1644-64del
ENST00000681282.1:c.*1618-68_*1618-64del	ENSP00000506339.1:n.*1618-68_*1618-64del
ENST00000333213.10:c.1431-68_1431-64del	ENSP00000327487.6:n.1431-68_1431-64del
ENST00000545228.2:c.708-68_708-64del
ENST00000577197.1:n.179-68_179-64del
ENST00000579449.1:n.628-68_628-64del
NM_207346.2:c.1431-68_1431-64del	NP_997229.2:n.1431-68_1431-64del
XM_005257229.2:c.1619-68_1619-64del	XP_005257286.1:n.1619-68_1619-64del
XM_006721821.2:c.1316-68_1316-64del	XP_006721884.1:n.1316-68_1316-64del
XM_011524616.1:c.1502-68_1502-64del	XP_011522918.1:n.1502-68_1502-64del
XM_011524617.1:c.*13-68_*13-64del	XP_011522919.1:n.*13-68_*13-64del
XM_011524618.1:c.1314-68_1314-64del	XP_011522920.1:n.1314-68_1314-64del
XR_243646.2:n.1663-68_1663-64del
XM_005257229.4:c.1619-68_1619-64del	XP_005257286.1:n.1619-68_1619-64del
XR_001753015.1:n.87+118_87+122del
XR_001753016.1:n.88+118_88+122del
XR_243646.4:n.1669-68_1669-64del
NM_207346.3:c.1431-68_1431-64del MANE Select	NP_997229.2:n.1431-68_1431-64del