Canonical Allele Identifier: CA2639836004

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516660-C-CGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516660_75516661insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG , CM000679.2:g.75516660_75516661insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	GRCh38
NC_000017.10:g.73512741_73512742insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG , CM000679.1:g.73512741_73512742insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	GRCh37
NC_000017.9:g.71024336_71024337insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	NCBI36
NG_013041.1:g.5133_5134insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
NG_033152.1:g.3923_3924insCTTCTGGCCTCCACTCGGCAGCCACCAAGCTGCCCCTGGCGAGGAGTGGGGAGGGGTCTGCGTCAGTCCATTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG MANE Select	ENSP00000327487.6:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000434205.8:c.-83+274_-83+275insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000406559.4:n.-83+274_-83+275insGGAATGGACTGACGCAGACCCCT...
ENST00000545228.3:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000438169.3:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000579449.2:n.20+44_20+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
ENST00000580013.6:n.65+44_65+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
ENST00000583818.2:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000461928.2:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000679370.1:n.444-86_444-85insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
ENST00000679429.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000505403.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000679782.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000505995.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000679928.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000506071.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000680528.1:n.81+44_81+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
ENST00000680999.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000504984.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000681282.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000506339.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000333213.10:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000327487.6:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000434205.7:c.-83+274_-83+275insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000406559.3:n.-83+274_-83+275insGGAATGGACTGACGCAGACCCCT...
ENST00000580013.5:n.81+44_81+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
ENST00000583173.5:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	ENSP00000463619.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCC...
ENST00000583454.1:n.91+44_91+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
NM_207346.2:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	NP_997229.2:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCT...
XM_005257229.2:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	XP_005257286.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACT...
XM_006721821.2:c.-247-86_-247-85insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	XP_006721884.1:n.-247-86_-247-85insGGAATGGACTGACGCAGACCCCTCCC...
XM_011524616.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	XP_011522918.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACT...
XM_011524617.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	XP_011522919.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACT...
XM_011524618.1:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	XP_011522920.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACT...
XR_243646.2:n.86+44_86+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
XM_005257229.4:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG	XP_005257286.1:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACT...
XR_243646.4:n.92+44_92+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG
NM_207346.3:c.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAG MANE Select	NP_997229.2:n.56+44_56+45insGGAATGGACTGACGCAGACCCCTCCCCACTCCT...