Canonical Allele Identifier: CA2639835662

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516569-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516569_75516570insCG , CM000679.2:g.75516569_75516570insCG	GRCh38
NC_000017.10:g.73512650_73512651insCG , CM000679.1:g.73512650_73512651insCG	GRCh37
NC_000017.9:g.71024245_71024246insCG	NCBI36
NG_013041.1:g.5042_5043insCG
NG_033152.1:g.4014_4015insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.9_10insCG MANE Select	ENSP00000327487.6:p.Glu4ArgfsTer?
ENST00000434205.8:c.-83+183_-83+184insCG	ENSP00000406559.4:n.-83+183_-83+184insCG
ENST00000545228.3:c.9_10insCG	ENSP00000438169.3:p.Glu4ArgfsTer?
ENST00000580013.6:n.18_19insCG
ENST00000583818.2:c.9_10insCG	ENSP00000461928.2:p.Glu4ArgfsTer?
ENST00000679370.1:n.444-177_444-176insCG
ENST00000679429.1:c.9_10insCG	ENSP00000505403.1:p.Glu4ArgfsTer?
ENST00000679782.1:c.9_10insCG	ENSP00000505995.1:p.Glu4ArgfsTer?
ENST00000679928.1:c.9_10insCG	ENSP00000506071.1:p.Glu4ArgfsTer?
ENST00000680528.1:n.34_35insCG
ENST00000680999.1:c.9_10insCG	ENSP00000504984.1:p.Glu4ArgfsTer?
ENST00000681282.1:c.9_10insCG	ENSP00000506339.1:p.Glu4ArgfsTer?
ENST00000333213.10:c.9_10insCG	ENSP00000327487.6:p.Glu4ArgfsTer?
ENST00000434205.7:c.-83+183_-83+184insCG	ENSP00000406559.3:n.-83+183_-83+184insCG
ENST00000580013.5:n.34_35insCG
ENST00000583173.5:c.9_10insCG	ENSP00000463619.1:p.Glu4ArgfsTer?
ENST00000583454.1:n.44_45insCG
NM_207346.2:c.9_10insCG	NP_997229.2:p.Glu4ArgfsTer?
XM_005257229.2:c.9_10insCG	XP_005257286.1:p.Glu4ArgfsTer?
XM_006721821.2:c.-247-177_-247-176insCG	XP_006721884.1:n.-247-177_-247-176insCG
XM_011524616.1:c.9_10insCG	XP_011522918.1:p.Glu4ArgfsTer?
XM_011524617.1:c.9_10insCG	XP_011522919.1:p.Glu4ArgfsTer?
XM_011524618.1:c.9_10insCG	XP_011522920.1:p.Glu4ArgfsTer?
XR_243646.2:n.39_40insCG
XM_005257229.4:c.9_10insCG	XP_005257286.1:p.Glu4ArgfsTer?
XR_243646.4:n.45_46insCG
NM_207346.3:c.9_10insCG MANE Select	NP_997229.2:p.Glu4ArgfsTer?