Canonical Allele Identifier: CA658798972
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 498601
dbSNP Id: rs1555644694

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75522201_75522203delinsGGC , CM000679.2:g.75522201_75522203delinsGGC GRCh38
NC_000017.10:g.73518282_73518284delinsGGC , CM000679.1:g.73518282_73518284delinsGGC GRCh37
NC_000017.9:g.71029877_71029879delinsGGC NCBI36
NG_013041.1:g.10674_10676delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.1120_1122delinsGGC MANE Select ENSP00000327487.6:p.Arg374Gly
ENST00000434205.8:c.817_819delinsGGC ENSP00000406559.4:p.Arg273Gly
ENST00000545228.3:c.1120_1122delinsGGC ENSP00000438169.3:p.Arg374Gly
ENST00000579449.2:n.919_921delinsGGC
ENST00000580013.6:n.1323_1325delinsGGC
ENST00000679370.1:n.1701_1703delinsGGC
ENST00000679429.1:c.*578_*580delinsGGC ENSP00000505403.1:n.*578_*580delinsGGC
ENST00000679443.1:n.1189_1191delinsGGC
ENST00000679782.1:c.1120_1122delinsGGC ENSP00000505995.1:p.Arg374Gly
ENST00000679919.1:n.1189_1191delinsGGC
ENST00000679928.1:c.*731_*733delinsGGC ENSP00000506071.1:n.*731_*733delinsGGC
ENST00000680528.1:n.1145_1147delinsGGC
ENST00000680999.1:c.1120_1122delinsGGC ENSP00000504984.1:p.Arg374Gly
ENST00000681282.1:c.*366_*368delinsGGC ENSP00000506339.1:n.*366_*368delinsGGC
ENST00000333213.10:c.1120_1122delinsGGC ENSP00000327487.6:p.Arg374Gly
ENST00000545228.2:c.209_211delinsGGC
ENST00000583173.5:c.653_655delinsGGC ENSP00000463619.1:n.653_655delinsGGC
NM_207346.2:c.1120_1122delinsGGC NP_997229.2:p.Arg374Gly
XM_005257229.2:c.1120_1122delinsGGC XP_005257286.1:p.Arg374Gly
XM_006721821.2:c.817_819delinsGGC XP_006721884.1:p.Arg273Gly
XM_011524616.1:c.1120_1122delinsGGC XP_011522918.1:p.Arg374Gly
XM_011524617.1:c.1120_1122delinsGGC XP_011522919.1:p.Arg374Gly
XM_011524618.1:c.1120_1122delinsGGC XP_011522920.1:p.Arg374Gly
XR_243646.2:n.1150_1152delinsGGC
XM_005257229.4:c.1120_1122delinsGGC XP_005257286.1:p.Arg374Gly
XR_243646.4:n.1156_1158delinsGGC
NM_207346.3:c.1120_1122delinsGGC MANE Select NP_997229.2:p.Arg374Gly