Canonical Allele Identifier: CA2639836671

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524664-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524665del , CM000679.2:g.75524665del	GRCh38
NC_000017.10:g.73520746del , CM000679.1:g.73520746del	GRCh37
NC_000017.9:g.71032341del	NCBI36
NG_013041.1:g.13138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*253del MANE Select	ENSP00000327487.6:n.*253del
ENST00000434205.8:c.*253del	ENSP00000406559.4:n.*253del
ENST00000545228.3:c.*333del	ENSP00000438169.3:n.*333del
ENST00000577197.2:n.1032del
ENST00000579449.2:n.2574del
ENST00000580013.6:n.2978del
ENST00000679370.1:n.3356del
ENST00000679429.1:c.*1292del	ENSP00000505403.1:n.*1292del
ENST00000679443.1:n.1903del
ENST00000679782.1:c.*533del	ENSP00000505995.1:n.*533del
ENST00000679919.1:n.2105del
ENST00000679928.1:c.*2386del	ENSP00000506071.1:n.*2386del
ENST00000680999.1:c.*253del	ENSP00000504984.1:n.*253del
ENST00000681282.1:c.*2021del	ENSP00000506339.1:n.*2021del
ENST00000333213.10:c.*253del	ENSP00000327487.6:n.*253del
ENST00000545228.2:c.1111del
ENST00000577197.1:n.582del
NM_207346.2:c.*253del	NP_997229.2:n.*253del
XM_005257229.2:c.*333del	XP_005257286.1:n.*333del
XM_006721821.2:c.*333del	XP_006721884.1:n.*333del
XM_011524616.1:c.*333del	XP_011522918.1:n.*333del
XM_011524618.1:c.*253del	XP_011522920.1:n.*253del
XR_243646.2:n.2066del
XM_005257229.4:c.*333del	XP_005257286.1:n.*333del
XR_243646.4:n.2072del
NM_207346.3:c.*253del MANE Select	NP_997229.2:n.*253del