Canonical Allele Identifier: CA2639836430

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524562-G-GTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524562_75524563insTTTC , CM000679.2:g.75524562_75524563insTTTC	GRCh38
NC_000017.10:g.73520643_73520644insTTTC , CM000679.1:g.73520643_73520644insTTTC	GRCh37
NC_000017.9:g.71032238_71032239insTTTC	NCBI36
NG_013041.1:g.13035_13036insTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*150_*151insTTTC MANE Select	ENSP00000327487.6:n.*150_*151insTTTC
ENST00000434205.8:c.*150_*151insTTTC	ENSP00000406559.4:n.*150_*151insTTTC
ENST00000545228.3:c.*230_*231insTTTC	ENSP00000438169.3:n.*230_*231insTTTC
ENST00000577197.2:n.929_930insTTTC
ENST00000579449.2:n.2471_2472insTTTC
ENST00000580013.6:n.2875_2876insTTTC
ENST00000679370.1:n.3253_3254insTTTC
ENST00000679429.1:c.*1189_*1190insTTTC	ENSP00000505403.1:n.*1189_*1190insTTTC
ENST00000679443.1:n.1800_1801insTTTC
ENST00000679782.1:c.*430_*431insTTTC	ENSP00000505995.1:n.*430_*431insTTTC
ENST00000679919.1:n.2002_2003insTTTC
ENST00000679928.1:c.*2283_*2284insTTTC	ENSP00000506071.1:n.*2283_*2284insTTTC
ENST00000680999.1:c.*150_*151insTTTC	ENSP00000504984.1:n.*150_*151insTTTC
ENST00000681282.1:c.*1918_*1919insTTTC	ENSP00000506339.1:n.*1918_*1919insTTTC
ENST00000333213.10:c.*150_*151insTTTC	ENSP00000327487.6:n.*150_*151insTTTC
ENST00000545228.2:c.1008_1009insTTTC
ENST00000577197.1:n.479_480insTTTC
NM_207346.2:c.*150_*151insTTTC	NP_997229.2:n.*150_*151insTTTC
XM_005257229.2:c.*230_*231insTTTC	XP_005257286.1:n.*230_*231insTTTC
XM_006721821.2:c.*230_*231insTTTC	XP_006721884.1:n.*230_*231insTTTC
XM_011524616.1:c.*230_*231insTTTC	XP_011522918.1:n.*230_*231insTTTC
XM_011524618.1:c.*150_*151insTTTC	XP_011522920.1:n.*150_*151insTTTC
XR_243646.2:n.1963_1964insTTTC
XM_005257229.4:c.*230_*231insTTTC	XP_005257286.1:n.*230_*231insTTTC
XR_243646.4:n.1969_1970insTTTC
NM_207346.3:c.*150_*151insTTTC MANE Select	NP_997229.2:n.*150_*151insTTTC