Canonical Allele Identifier: CA2639835918

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524341-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524342del , CM000679.2:g.75524342del	GRCh38
NC_000017.10:g.73520423del , CM000679.1:g.73520423del	GRCh37
NC_000017.9:g.71032018del	NCBI36
NG_013041.1:g.12815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1511del MANE Select	ENSP00000327487.6:p.Leu504ArgfsTer?
ENST00000434205.8:c.1208del	ENSP00000406559.4:p.Leu403ArgfsTer?
ENST00000545228.3:c.*10del	ENSP00000438169.3:n.*10del
ENST00000577197.2:n.709del
ENST00000579449.2:n.2251del
ENST00000580013.6:n.2655del
ENST00000679370.1:n.3033del
ENST00000679429.1:c.*969del	ENSP00000505403.1:n.*969del
ENST00000679443.1:n.1580del
ENST00000679782.1:c.*210del	ENSP00000505995.1:n.*210del
ENST00000679919.1:n.1782del
ENST00000679928.1:c.*2063del	ENSP00000506071.1:n.*2063del
ENST00000680528.1:n.2477del
ENST00000680999.1:c.1724del	ENSP00000504984.1:p.Leu575ArgfsTer?
ENST00000681282.1:c.*1698del	ENSP00000506339.1:n.*1698del
ENST00000333213.10:c.1511del	ENSP00000327487.6:p.Leu504ArgfsTer?
ENST00000545228.2:c.788del
ENST00000577197.1:n.259del
ENST00000579449.1:n.708del
NM_207346.2:c.1511del	NP_997229.2:p.Leu504ArgfsTer?
XM_005257229.2:c.*10del	XP_005257286.1:n.*10del
XM_006721821.2:c.*10del	XP_006721884.1:n.*10del
XM_011524616.1:c.*10del	XP_011522918.1:n.*10del
XM_011524617.1:c.*93del	XP_011522919.1:n.*93del
XM_011524618.1:c.1394del	XP_011522920.1:p.Leu465ArgfsTer?
XR_243646.2:n.1743del
XM_005257229.4:c.*10del	XP_005257286.1:n.*10del
XR_001753015.1:n.56del
XR_001753016.1:n.57del
XR_243646.4:n.1749del
NM_207346.3:c.1511del MANE Select	NP_997229.2:p.Leu504ArgfsTer?