Canonical Allele Identifier: CA775078214

Gene: TSEN54

Linked Data

• dbSNP Id: rs1409980629
• gnomAD v4: 17-75524142-CAG-C
• MyVariant Identifiers: chr17:g.73520224_73520225del (hg19) ; chr17:g.75524143_75524144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524144_75524145del , CM000679.2:g.75524144_75524145del	GRCh38
NC_000017.10:g.73520225_73520226del , CM000679.1:g.73520225_73520226del	GRCh37
NC_000017.9:g.71031820_71031821del	NCBI36
NG_013041.1:g.12617_12618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1431-118_1431-117del MANE Select	ENSP00000327487.6:n.1431-118_1431-117del
ENST00000434205.8:c.1128-118_1128-117del	ENSP00000406559.4:n.1128-118_1128-117del
ENST00000545228.3:c.1619-118_1619-117del	ENSP00000438169.3:n.1619-118_1619-117del
ENST00000577197.2:n.629-118_629-117del
ENST00000579449.2:n.2171-118_2171-117del
ENST00000580013.6:n.2575-118_2575-117del
ENST00000679370.1:n.2953-118_2953-117del
ENST00000679429.1:c.*889-118_*889-117del	ENSP00000505403.1:n.*889-118_*889-117del
ENST00000679443.1:n.1500-118_1500-117del
ENST00000679782.1:c.*130-118_*130-117del	ENSP00000505995.1:n.*130-118_*130-117del
ENST00000679919.1:n.1702-118_1702-117del
ENST00000679928.1:c.*1983-118_*1983-117del	ENSP00000506071.1:n.*1983-118_*1983-117del
ENST00000680528.1:n.2397-118_2397-117del
ENST00000680999.1:c.1644-118_1644-117del	ENSP00000504984.1:n.1644-118_1644-117del
ENST00000681282.1:c.*1618-118_*1618-117del	ENSP00000506339.1:n.*1618-118_*1618-117del
ENST00000333213.10:c.1431-118_1431-117del	ENSP00000327487.6:n.1431-118_1431-117del
ENST00000545228.2:c.708-118_708-117del
ENST00000577197.1:n.179-118_179-117del
ENST00000579449.1:n.628-118_628-117del
NM_207346.2:c.1431-118_1431-117del	NP_997229.2:n.1431-118_1431-117del
XM_005257229.2:c.1619-118_1619-117del	XP_005257286.1:n.1619-118_1619-117del
XM_006721821.2:c.1316-118_1316-117del	XP_006721884.1:n.1316-118_1316-117del
XM_011524616.1:c.1502-118_1502-117del	XP_011522918.1:n.1502-118_1502-117del
XM_011524617.1:c.*13-118_*13-117del	XP_011522919.1:n.*13-118_*13-117del
XM_011524618.1:c.1314-118_1314-117del	XP_011522920.1:n.1314-118_1314-117del
XR_243646.2:n.1663-118_1663-117del
XM_005257229.4:c.1619-118_1619-117del	XP_005257286.1:n.1619-118_1619-117del
XR_001753015.1:n.87+167_87+168del
XR_001753016.1:n.88+167_88+168del
XR_243646.4:n.1669-118_1669-117del
NM_207346.3:c.1431-118_1431-117del MANE Select	NP_997229.2:n.1431-118_1431-117del