Canonical Allele Identifier: CA277194
Gene: TSEN54 HGNC NCBI

Linked Data

ClinVar Variation Id: 212451
ClinVar RCV Id: RCV000193727
dbSNP Id: rs797046054

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75523735_75523736insTA , CM000679.2:g.75523735_75523736insTA GRCh38
NC_000017.10:g.73519816_73519817insTA , CM000679.1:g.73519816_73519817insTA GRCh37
NC_000017.9:g.71031411_71031412insTA NCBI36
NG_013041.1:g.12208_12209insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000333213.11:c.1386_1387insTA MANE Select ENSP00000327487.6:p.Lys463Ter
ENST00000434205.8:c.1083_1084insTA ENSP00000406559.4:p.Lys362Ter
ENST00000545228.3:c.1574_1575insTA ENSP00000438169.3:p.Glu525AspfsTer4
ENST00000577197.2:n.584_585insTA
ENST00000579449.2:n.2126_2127insTA
ENST00000580013.6:n.2530_2531insTA
ENST00000679370.1:n.2908_2909insTA
ENST00000679429.1:c.*844_*845insTA ENSP00000505403.1:n.*844_*845insTA
ENST00000679443.1:n.1455_1456insTA
ENST00000679782.1:c.*85_*86insTA ENSP00000505995.1:n.*85_*86insTA
ENST00000679919.1:n.1657_1658insTA
ENST00000679928.1:c.*1938_*1939insTA ENSP00000506071.1:n.*1938_*1939insTA
ENST00000680528.1:n.2352_2353insTA
ENST00000680999.1:c.1599_1600insTA ENSP00000504984.1:p.Lys534Ter
ENST00000681282.1:c.*1573_*1574insTA ENSP00000506339.1:n.*1573_*1574insTA
ENST00000333213.10:c.1386_1387insTA ENSP00000327487.6:p.Lys463Ter
ENST00000545228.2:c.663_664insTA
ENST00000577197.1:n.134_135insTA
ENST00000579449.1:n.583_584insTA
NM_207346.2:c.1386_1387insTA NP_997229.2:p.Lys463Ter
XM_005257229.2:c.1574_1575insTA XP_005257286.1:p.Glu525AspfsTer4
XM_006721821.2:c.1271_1272insTA XP_006721884.1:p.Glu424AspfsTer4
XM_011524616.1:c.1501+400_1501+401insTA XP_011522918.1:n.1501+400_1501+401insTA
XM_011524617.1:c.*12+400_*12+401insTA XP_011522919.1:n.*12+400_*12+401insTA
XM_011524618.1:c.1313+400_1313+401insTA XP_011522920.1:n.1313+400_1313+401insTA
XR_243646.2:n.1618_1619insTA
XM_005257229.4:c.1574_1575insTA XP_005257286.1:p.Glu525AspfsTer4
XR_001753015.1:n.88-367_88-366insAT
XR_001753016.1:n.89-331_89-330insAT
XR_243646.4:n.1624_1625insTA
NM_207346.3:c.1386_1387insTA MANE Select NP_997229.2:p.Lys463Ter