Canonical Allele Identifier: CA2639828507

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522051-C-CCGGCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522054_75522060dup , CM000679.2:g.75522054_75522060dup	GRCh38
NC_000017.10:g.73518135_73518141dup , CM000679.1:g.73518135_73518141dup	GRCh37
NC_000017.9:g.71029730_71029736dup	NCBI36
NG_013041.1:g.10527_10533dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.973_979dup MANE Select	ENSP00000327487.6:p.Val327GlyfsTer11
ENST00000434205.8:c.670_676dup	ENSP00000406559.4:p.Val226GlyfsTer11
ENST00000545228.3:c.973_979dup	ENSP00000438169.3:p.Val327GlyfsTer11
ENST00000579449.2:n.772_778dup
ENST00000580013.6:n.1176_1182dup
ENST00000679370.1:n.1554_1560dup
ENST00000679429.1:c.*431_*437dup	ENSP00000505403.1:n.*431_*437dup
ENST00000679443.1:n.1042_1048dup
ENST00000679782.1:c.973_979dup	ENSP00000505995.1:p.Val327GlyfsTer11
ENST00000679919.1:n.1042_1048dup
ENST00000679928.1:c.*584_*590dup	ENSP00000506071.1:n.*584_*590dup
ENST00000680528.1:n.998_1004dup
ENST00000680999.1:c.973_979dup	ENSP00000504984.1:p.Val327GlyfsTer11
ENST00000681282.1:c.*219_*225dup	ENSP00000506339.1:n.*219_*225dup
ENST00000333213.10:c.973_979dup	ENSP00000327487.6:p.Val327GlyfsTer11
ENST00000545228.2:c.62_68dup
ENST00000578415.1:c.933_939dup
ENST00000583173.5:c.506_512dup	ENSP00000463619.1:p.Gly172ProfsTer17
NM_207346.2:c.973_979dup	NP_997229.2:p.Val327GlyfsTer11
XM_005257229.2:c.973_979dup	XP_005257286.1:p.Val327GlyfsTer11
XM_006721821.2:c.670_676dup	XP_006721884.1:p.Val226GlyfsTer11
XM_011524616.1:c.973_979dup	XP_011522918.1:p.Val327GlyfsTer11
XM_011524617.1:c.973_979dup	XP_011522919.1:p.Val327GlyfsTer11
XM_011524618.1:c.973_979dup	XP_011522920.1:p.Val327GlyfsTer11
XR_243646.2:n.1003_1009dup
XM_005257229.4:c.973_979dup	XP_005257286.1:p.Val327GlyfsTer11
XR_243646.4:n.1009_1015dup
NM_207346.3:c.973_979dup MANE Select	NP_997229.2:p.Val327GlyfsTer11