Canonical Allele Identifier: CA344263
Community Standard Title: NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439TrpfsTer15)
Gene: LPIN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2931399_2931400del , CM000680.2:g.2931399_2931400del GRCh38
NC_000018.9:g.2931397_2931398del , CM000680.1:g.2931397_2931398del GRCh37
NC_000018.8:g.2921397_2921398del NCBI36
NG_007507.1:g.85552_85553del , LRG_174:g.85552_85553del

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.1316_1317del MANE Select NP_001362737.1:p.Ser439TrpfsTer15
ENST00000677752.1:c.1316_1317del MANE Select ENSP00000504857.1:p.Ser439TrpfsTer15
NM_001375808.1:c.1316_1317del NP_001362737.1:p.Ser439TrpfsTer15
NM_001375809.1:c.1316_1317del NP_001362738.1:p.Ser439TrpfsTer15
NM_014646.2:c.1316_1317del , LRG_174t1:c.1316_1317del NP_055461.1:p.Ser439TrpfsTer15
ENST00000261596.8:c.1316_1317del ENSP00000261596.4:p.Ser439TrpfsTer15
ENST00000261596.9:c.1316_1317del ENSP00000261596.4:p.Ser439TrpfsTer15
ENST00000697039.1:c.1316_1317del ENSP00000513061.1:p.Ser439TrpfsTer15
ENST00000697040.1:c.1316_1317del ENSP00000513062.1:p.Ser439TrpfsTer15
ENST00000697041.1:c.11_12del ENSP00000513063.1:p.Ser4TrpfsTer15
ENST00000697042.1:c.1316_1317del ENSP00000513064.1:p.Ser439TrpfsTer15
XM_005258177.3:c.1427_1428del XP_005258234.1:p.Ser476TrpfsTer15
XM_005258177.4:c.1427_1428del XP_005258234.1:p.Ser476TrpfsTer15
XM_005258178.2:c.1316_1317del XP_005258235.1:p.Ser439TrpfsTer15
XM_005258178.3:c.1316_1317del XP_005258235.1:p.Ser439TrpfsTer15
XM_005258179.3:c.1316_1317del XP_005258236.1:p.Ser439TrpfsTer15
XM_005258179.5:c.1316_1317del XP_005258236.1:p.Ser439TrpfsTer15
XM_017026098.1:c.1316_1317del XP_016881587.1:p.Ser439TrpfsTer15
XM_017026099.1:c.1316_1317del XP_016881588.1:p.Ser439TrpfsTer15
XR_935074.1:n.1445_1446del
XR_935074.2:n.1490_1491del
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