Canonical Allele Identifier: CA2639829368

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75522175-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522176del , CM000679.2:g.75522176del	GRCh38
NC_000017.10:g.73518257del , CM000679.1:g.73518257del	GRCh37
NC_000017.9:g.71029852del	NCBI36
NG_013041.1:g.10649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1095del MANE Select	ENSP00000327487.6:p.Asp365GlufsTer?
ENST00000434205.8:c.792del	ENSP00000406559.4:p.Asp264GlufsTer?
ENST00000545228.3:c.1095del	ENSP00000438169.3:p.Asp365GlufsTer?
ENST00000579449.2:n.894del
ENST00000580013.6:n.1298del
ENST00000679370.1:n.1676del
ENST00000679429.1:c.*553del	ENSP00000505403.1:n.*553del
ENST00000679443.1:n.1164del
ENST00000679782.1:c.1095del	ENSP00000505995.1:p.Asp365GlufsTer?
ENST00000679919.1:n.1164del
ENST00000679928.1:c.*706del	ENSP00000506071.1:n.*706del
ENST00000680528.1:n.1120del
ENST00000680999.1:c.1095del	ENSP00000504984.1:p.Asp365GlufsTer?
ENST00000681282.1:c.*341del	ENSP00000506339.1:n.*341del
ENST00000333213.10:c.1095del	ENSP00000327487.6:p.Asp365GlufsTer?
ENST00000545228.2:c.184del
ENST00000583173.5:c.628del	ENSP00000463619.1:n.628del
NM_207346.2:c.1095del	NP_997229.2:p.Asp365GlufsTer?
XM_005257229.2:c.1095del	XP_005257286.1:p.Asp365GlufsTer?
XM_006721821.2:c.792del	XP_006721884.1:p.Asp264GlufsTer?
XM_011524616.1:c.1095del	XP_011522918.1:p.Asp365GlufsTer?
XM_011524617.1:c.1095del	XP_011522919.1:p.Asp365GlufsTer?
XM_011524618.1:c.1095del	XP_011522920.1:p.Asp365GlufsTer?
XR_243646.2:n.1125del
XM_005257229.4:c.1095del	XP_005257286.1:p.Asp365GlufsTer?
XR_243646.4:n.1131del
NM_207346.3:c.1095del MANE Select	NP_997229.2:p.Asp365GlufsTer?