Canonical Allele Identifier: CA2639835675

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516571-A-ATCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516571_75516572insTCC , CM000679.2:g.75516571_75516572insTCC	GRCh38
NC_000017.10:g.73512652_73512653insTCC , CM000679.1:g.73512652_73512653insTCC	GRCh37
NC_000017.9:g.71024247_71024248insTCC	NCBI36
NG_013041.1:g.5044_5045insTCC
NG_033152.1:g.4012_4013insGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.11_12insTCC MANE Select	ENSP00000327487.6:p.Glu4delinsAspPro
ENST00000434205.8:c.-83+185_-83+186insTCC	ENSP00000406559.4:n.-83+185_-83+186insTCC
ENST00000545228.3:c.11_12insTCC	ENSP00000438169.3:p.Glu4delinsAspPro
ENST00000580013.6:n.20_21insTCC
ENST00000583818.2:c.11_12insTCC	ENSP00000461928.2:p.Glu4delinsAspPro
ENST00000679370.1:n.444-175_444-174insTCC
ENST00000679429.1:c.11_12insTCC	ENSP00000505403.1:p.Glu4delinsAspPro
ENST00000679782.1:c.11_12insTCC	ENSP00000505995.1:p.Glu4delinsAspPro
ENST00000679928.1:c.11_12insTCC	ENSP00000506071.1:p.Glu4delinsAspPro
ENST00000680528.1:n.36_37insTCC
ENST00000680999.1:c.11_12insTCC	ENSP00000504984.1:p.Glu4delinsAspPro
ENST00000681282.1:c.11_12insTCC	ENSP00000506339.1:p.Glu4delinsAspPro
ENST00000333213.10:c.11_12insTCC	ENSP00000327487.6:p.Glu4delinsAspPro
ENST00000434205.7:c.-83+185_-83+186insTCC	ENSP00000406559.3:n.-83+185_-83+186insTCC
ENST00000580013.5:n.36_37insTCC
ENST00000583173.5:c.11_12insTCC	ENSP00000463619.1:p.Glu4delinsAspPro
ENST00000583454.1:n.46_47insTCC
NM_207346.2:c.11_12insTCC	NP_997229.2:p.Glu4delinsAspPro
XM_005257229.2:c.11_12insTCC	XP_005257286.1:p.Glu4delinsAspPro
XM_006721821.2:c.-247-175_-247-174insTCC	XP_006721884.1:n.-247-175_-247-174insTCC
XM_011524616.1:c.11_12insTCC	XP_011522918.1:p.Glu4delinsAspPro
XM_011524617.1:c.11_12insTCC	XP_011522919.1:p.Glu4delinsAspPro
XM_011524618.1:c.11_12insTCC	XP_011522920.1:p.Glu4delinsAspPro
XR_243646.2:n.41_42insTCC
XM_005257229.4:c.11_12insTCC	XP_005257286.1:p.Glu4delinsAspPro
XR_243646.4:n.47_48insTCC
NM_207346.3:c.11_12insTCC MANE Select	NP_997229.2:p.Glu4delinsAspPro