Canonical Allele Identifier: CA2639835690

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516572-G-GGAGCCCGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516572_75516573insGAGCCCGAT , CM000679.2:g.75516572_75516573insGAGCCCGAT	GRCh38
NC_000017.10:g.73512653_73512654insGAGCCCGAT , CM000679.1:g.73512653_73512654insGAGCCCGAT	GRCh37
NC_000017.9:g.71024248_71024249insGAGCCCGAT	NCBI36
NG_013041.1:g.5045_5046insGAGCCCGAT
NG_033152.1:g.4011_4012insATCGGGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.12_13insGAGCCCGAT MANE Select	ENSP00000327487.6:p.Glu4_Pro5insGluProAsp
ENST00000434205.8:c.-83+186_-83+187insGAGCCCGAT	ENSP00000406559.4:n.-83+186_-83+187insGAGCCCGAT
ENST00000545228.3:c.12_13insGAGCCCGAT	ENSP00000438169.3:p.Glu4_Pro5insGluProAsp
ENST00000580013.6:n.21_22insGAGCCCGAT
ENST00000583818.2:c.12_13insGAGCCCGAT	ENSP00000461928.2:p.Glu4_Pro5insGluProAsp
ENST00000679370.1:n.444-174_444-173insGAGCCCGAT
ENST00000679429.1:c.12_13insGAGCCCGAT	ENSP00000505403.1:p.Glu4_Pro5insGluProAsp
ENST00000679782.1:c.12_13insGAGCCCGAT	ENSP00000505995.1:p.Glu4_Pro5insGluProAsp
ENST00000679928.1:c.12_13insGAGCCCGAT	ENSP00000506071.1:p.Glu4_Pro5insGluProAsp
ENST00000680528.1:n.37_38insGAGCCCGAT
ENST00000680999.1:c.12_13insGAGCCCGAT	ENSP00000504984.1:p.Glu4_Pro5insGluProAsp
ENST00000681282.1:c.12_13insGAGCCCGAT	ENSP00000506339.1:p.Glu4_Pro5insGluProAsp
ENST00000333213.10:c.12_13insGAGCCCGAT	ENSP00000327487.6:p.Glu4_Pro5insGluProAsp
ENST00000434205.7:c.-83+186_-83+187insGAGCCCGAT	ENSP00000406559.3:n.-83+186_-83+187insGAGCCCGAT
ENST00000580013.5:n.37_38insGAGCCCGAT
ENST00000583173.5:c.12_13insGAGCCCGAT	ENSP00000463619.1:p.Glu4_Pro5insGluProAsp
ENST00000583454.1:n.47_48insGAGCCCGAT
NM_207346.2:c.12_13insGAGCCCGAT	NP_997229.2:p.Glu4_Pro5insGluProAsp
XM_005257229.2:c.12_13insGAGCCCGAT	XP_005257286.1:p.Glu4_Pro5insGluProAsp
XM_006721821.2:c.-247-174_-247-173insGAGCCCGAT	XP_006721884.1:n.-247-174_-247-173insGAGCCCGAT
XM_011524616.1:c.12_13insGAGCCCGAT	XP_011522918.1:p.Glu4_Pro5insGluProAsp
XM_011524617.1:c.12_13insGAGCCCGAT	XP_011522919.1:p.Glu4_Pro5insGluProAsp
XM_011524618.1:c.12_13insGAGCCCGAT	XP_011522920.1:p.Glu4_Pro5insGluProAsp
XR_243646.2:n.42_43insGAGCCCGAT
XM_005257229.4:c.12_13insGAGCCCGAT	XP_005257286.1:p.Glu4_Pro5insGluProAsp
XR_243646.4:n.48_49insGAGCCCGAT
NM_207346.3:c.12_13insGAGCCCGAT MANE Select	NP_997229.2:p.Glu4_Pro5insGluProAsp