Canonical Allele Identifier: CA2639828633

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522068-GCGGGAGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522069_75522076del , CM000679.2:g.75522069_75522076del	GRCh38
NC_000017.10:g.73518150_73518157del , CM000679.1:g.73518150_73518157del	GRCh37
NC_000017.9:g.71029745_71029752del	NCBI36
NG_013041.1:g.10542_10549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.988_995del MANE Select	ENSP00000327487.6:p.Glu331ArgfsTer2
ENST00000434205.8:c.685_692del	ENSP00000406559.4:p.Glu230ArgfsTer2
ENST00000545228.3:c.988_995del	ENSP00000438169.3:p.Glu331ArgfsTer2
ENST00000579449.2:n.787_794del
ENST00000580013.6:n.1191_1198del
ENST00000679370.1:n.1569_1576del
ENST00000679429.1:c.*446_*453del	ENSP00000505403.1:n.*446_*453del
ENST00000679443.1:n.1057_1064del
ENST00000679782.1:c.988_995del	ENSP00000505995.1:p.Glu331ArgfsTer2
ENST00000679919.1:n.1057_1064del
ENST00000679928.1:c.*599_*606del	ENSP00000506071.1:n.*599_*606del
ENST00000680528.1:n.1013_1020del
ENST00000680999.1:c.988_995del	ENSP00000504984.1:p.Glu331ArgfsTer2
ENST00000681282.1:c.*234_*241del	ENSP00000506339.1:n.*234_*241del
ENST00000333213.10:c.988_995del	ENSP00000327487.6:p.Glu331ArgfsTer2
ENST00000545228.2:c.77_84del
ENST00000578415.1:c.948_955del
ENST00000583173.5:c.521_528del	ENSP00000463619.1:p.Ala174GlufsTer10
NM_207346.2:c.988_995del	NP_997229.2:p.Glu331ArgfsTer2
XM_005257229.2:c.988_995del	XP_005257286.1:p.Glu331ArgfsTer2
XM_006721821.2:c.685_692del	XP_006721884.1:p.Glu230ArgfsTer2
XM_011524616.1:c.988_995del	XP_011522918.1:p.Glu331ArgfsTer2
XM_011524617.1:c.988_995del	XP_011522919.1:p.Glu331ArgfsTer2
XM_011524618.1:c.988_995del	XP_011522920.1:p.Glu331ArgfsTer2
XR_243646.2:n.1018_1025del
XM_005257229.4:c.988_995del	XP_005257286.1:p.Glu331ArgfsTer2
XR_243646.4:n.1024_1031del
NM_207346.3:c.988_995del MANE Select	NP_997229.2:p.Glu331ArgfsTer2