Canonical Allele Identifier: CA2275551350

Gene: TSEN54

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522007_75522010delinsACAG , CM000679.2:g.75522007_75522010delinsACAG	GRCh38
NC_000017.10:g.73518088_73518091delinsACAG , CM000679.1:g.73518088_73518091delinsACAG	GRCh37
NC_000017.9:g.71029683_71029686delinsACAG	NCBI36
NG_013041.1:g.10480_10483delinsACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000333213.11:c.926_929delinsACAG MANE Select	ENSP00000327487.6:p.Asp309=
ENST00000434205.8:c.623_626delinsACAG	ENSP00000406559.4:p.Asp208=
ENST00000545228.3:c.926_929delinsACAG	ENSP00000438169.3:p.Asp309=
ENST00000579449.2:n.725_728delinsACAG
ENST00000580013.6:n.1129_1132delinsACAG
ENST00000679370.1:n.1507_1510delinsACAG
ENST00000679429.1:c.*384_*387delinsACAG	ENSP00000505403.1:n.*384_*387delinsACAG
ENST00000679443.1:n.995_998delinsACAG
ENST00000679782.1:c.926_929delinsACAG	ENSP00000505995.1:p.Asp309=
ENST00000679919.1:n.995_998delinsACAG
ENST00000679928.1:c.*537_*540delinsACAG	ENSP00000506071.1:n.*537_*540delinsACAG
ENST00000680528.1:n.951_954delinsACAG
ENST00000680999.1:c.926_929delinsACAG	ENSP00000504984.1:p.Asp309=
ENST00000681282.1:c.*172_*175delinsACAG	ENSP00000506339.1:n.*172_*175delinsACAG
ENST00000333213.10:c.926_929delinsACAG	ENSP00000327487.6:p.Asp309=
ENST00000545228.2:c.15_18delinsACAG
ENST00000578415.1:c.886_889delinsACAG
ENST00000583173.5:c.459_462delinsACAG	ENSP00000463619.1:p.Arg153=
NM_207346.2:c.926_929delinsACAG	NP_997229.2:p.Asp309=
XM_005257229.2:c.926_929delinsACAG	XP_005257286.1:p.Asp309=
XM_006721821.2:c.623_626delinsACAG	XP_006721884.1:p.Asp208=
XM_011524616.1:c.926_929delinsACAG	XP_011522918.1:p.Asp309=
XM_011524617.1:c.926_929delinsACAG	XP_011522919.1:p.Asp309=
XM_011524618.1:c.926_929delinsACAG	XP_011522920.1:p.Asp309=
XR_243646.2:n.956_959delinsACAG
XM_005257229.4:c.926_929delinsACAG	XP_005257286.1:p.Asp309=
XR_243646.4:n.962_965delinsACAG
NM_207346.3:c.926_929delinsACAG MANE Select	NP_997229.2:p.Asp309=