Canonical Allele Identifier: CA2275552755
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs2053485105

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75524680_75524681insAA , CM000679.2:g.75524680_75524681insAA GRCh38
NC_000017.10:g.73520761_73520762insAA , CM000679.1:g.73520761_73520762insAA GRCh37
NC_000017.9:g.71032356_71032357insAA NCBI36
NG_013041.1:g.13153_13154insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000333213.11:c.*268_*269insAA MANE Select ENSP00000327487.6:n.*268_*269insAA
ENST00000434205.8:c.*268_*269insAA ENSP00000406559.4:n.*268_*269insAA
ENST00000545228.3:c.*348_*349insAA ENSP00000438169.3:n.*348_*349insAA
ENST00000577197.2:n.1047_1048insAA
ENST00000579449.2:n.2589_2590insAA
ENST00000580013.6:n.2993_2994insAA
ENST00000679370.1:n.3371_3372insAA
ENST00000679429.1:c.*1307_*1308insAA ENSP00000505403.1:n.*1307_*1308insAA
ENST00000679443.1:n.1918_1919insAA
ENST00000679782.1:c.*548_*549insAA ENSP00000505995.1:n.*548_*549insAA
ENST00000679919.1:n.2120_2121insAA
ENST00000679928.1:c.*2401_*2402insAA ENSP00000506071.1:n.*2401_*2402insAA
ENST00000680999.1:c.*268_*269insAA ENSP00000504984.1:n.*268_*269insAA
ENST00000681282.1:c.*2036_*2037insAA ENSP00000506339.1:n.*2036_*2037insAA
ENST00000333213.10:c.*268_*269insAA ENSP00000327487.6:n.*268_*269insAA
ENST00000545228.2:c.1126_1127insAA
ENST00000577197.1:n.597_598insAA
NM_207346.2:c.*268_*269insAA NP_997229.2:n.*268_*269insAA
XM_005257229.2:c.*348_*349insAA XP_005257286.1:n.*348_*349insAA
XM_006721821.2:c.*348_*349insAA XP_006721884.1:n.*348_*349insAA
XM_011524616.1:c.*348_*349insAA XP_011522918.1:n.*348_*349insAA
XM_011524618.1:c.*268_*269insAA XP_011522920.1:n.*268_*269insAA
XR_243646.2:n.2081_2082insAA
XM_005257229.4:c.*348_*349insAA XP_005257286.1:n.*348_*349insAA
XR_243646.4:n.2087_2088insAA
NM_207346.3:c.*268_*269insAA MANE Select NP_997229.2:n.*268_*269insAA