Canonical Allele Identifier: CA2275551044
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75521431_75521432delinsAG , CM000679.2:g.75521431_75521432delinsAG GRCh38
NC_000017.10:g.73517512_73517513delinsAG , CM000679.1:g.73517512_73517513delinsAG GRCh37
NC_000017.9:g.71029107_71029108delinsAG NCBI36
NG_013041.1:g.9904_9905delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.544_545delinsAG MANE Select ENSP00000327487.6:p.Arg182=
ENST00000434205.8:c.241_242delinsAG ENSP00000406559.4:p.Arg81=
ENST00000545228.3:c.544_545delinsAG ENSP00000438169.3:p.Arg182=
ENST00000579449.2:n.343_344delinsAG
ENST00000580013.6:n.553_554delinsAG
ENST00000583818.2:c.598_599delinsAG ENSP00000461928.2:n.598_599delinsAG
ENST00000679370.1:n.931_932delinsAG
ENST00000679429.1:c.*2_*3delinsAG ENSP00000505403.1:n.*2_*3delinsAG
ENST00000679443.1:n.419_420delinsAG
ENST00000679782.1:c.544_545delinsAG ENSP00000505995.1:p.Arg182=
ENST00000679919.1:n.419_420delinsAG
ENST00000679928.1:c.*155_*156delinsAG ENSP00000506071.1:n.*155_*156delinsAG
ENST00000680528.1:n.569_570delinsAG
ENST00000680999.1:c.544_545delinsAG ENSP00000504984.1:p.Arg182=
ENST00000681282.1:c.544_545delinsAG ENSP00000506339.1:p.Arg182=
ENST00000333213.10:c.544_545delinsAG ENSP00000327487.6:p.Arg182=
ENST00000578415.1:c.504_505delinsAG
ENST00000580013.5:n.561_562delinsAG
ENST00000583173.5:c.379_380delinsAG ENSP00000463619.1:p.Arg127=
ENST00000583818.1:c.493_494delinsAG ENSP00000461928.1:n.493_494delinsAG
NM_207346.2:c.544_545delinsAG NP_997229.2:p.Arg182=
XM_005257229.2:c.544_545delinsAG XP_005257286.1:p.Arg182=
XM_006721821.2:c.241_242delinsAG XP_006721884.1:p.Arg81=
XM_011524616.1:c.544_545delinsAG XP_011522918.1:p.Arg182=
XM_011524617.1:c.544_545delinsAG XP_011522919.1:p.Arg182=
XM_011524618.1:c.544_545delinsAG XP_011522920.1:p.Arg182=
XR_243646.2:n.574_575delinsAG
XM_005257229.4:c.544_545delinsAG XP_005257286.1:p.Arg182=
XR_243646.4:n.580_581delinsAG
NM_207346.3:c.544_545delinsAG MANE Select NP_997229.2:p.Arg182=