Canonical Allele Identifier: CA2639836594

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75524628-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524632del , CM000679.2:g.75524632del	GRCh38
NC_000017.10:g.73520713del , CM000679.1:g.73520713del	GRCh37
NC_000017.9:g.71032308del	NCBI36
NG_013041.1:g.13105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.*220del MANE Select	ENSP00000327487.6:n.*220del
ENST00000434205.8:c.*220del	ENSP00000406559.4:n.*220del
ENST00000545228.3:c.*300del	ENSP00000438169.3:n.*300del
ENST00000577197.2:n.999del
ENST00000579449.2:n.2541del
ENST00000580013.6:n.2945del
ENST00000679370.1:n.3323del
ENST00000679429.1:c.*1259del	ENSP00000505403.1:n.*1259del
ENST00000679443.1:n.1870del
ENST00000679782.1:c.*500del	ENSP00000505995.1:n.*500del
ENST00000679919.1:n.2072del
ENST00000679928.1:c.*2353del	ENSP00000506071.1:n.*2353del
ENST00000680999.1:c.*220del	ENSP00000504984.1:n.*220del
ENST00000681282.1:c.*1988del	ENSP00000506339.1:n.*1988del
ENST00000333213.10:c.*220del	ENSP00000327487.6:n.*220del
ENST00000545228.2:c.1078del
ENST00000577197.1:n.549del
NM_207346.2:c.*220del	NP_997229.2:n.*220del
XM_005257229.2:c.*300del	XP_005257286.1:n.*300del
XM_006721821.2:c.*300del	XP_006721884.1:n.*300del
XM_011524616.1:c.*300del	XP_011522918.1:n.*300del
XM_011524618.1:c.*220del	XP_011522920.1:n.*220del
XR_243646.2:n.2033del
XM_005257229.4:c.*300del	XP_005257286.1:n.*300del
XR_243646.4:n.2039del
NM_207346.3:c.*220del MANE Select	NP_997229.2:n.*220del