Canonical Allele Identifier: CA10577587
Community Standard Title: NM_001375808.2(LPIN2):c.132_135dup (p.Ser46ValfsTer22)
Gene: LPIN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2960706_2960709dup , CM000680.2:g.2960706_2960709dup GRCh38
NC_000018.9:g.2960704_2960707dup , CM000680.1:g.2960704_2960707dup GRCh37
NC_000018.8:g.2950704_2950707dup NCBI36
NG_007507.1:g.56239_56242dup , LRG_174:g.56239_56242dup

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.132_135dup MANE Select NP_001362737.1:p.Ser46ValfsTer22
ENST00000677752.1:c.132_135dup MANE Select ENSP00000504857.1:p.Ser46ValfsTer22
NM_001375808.1:c.132_135dup NP_001362737.1:p.Ser46ValfsTer22
NM_001375809.1:c.132_135dup NP_001362738.1:p.Ser46ValfsTer22
NM_014646.2:c.132_135dup , LRG_174t1:c.132_135dup NP_055461.1:p.Ser46ValfsTer22
ENST00000261596.8:c.132_135dup ENSP00000261596.4:p.Ser46ValfsTer22
ENST00000261596.9:c.132_135dup ENSP00000261596.4:p.Ser46ValfsTer22
ENST00000584294.1:c.132_135dup ENSP00000463026.1:p.Ser46ValfsTer22
ENST00000584915.1:c.243_246dup ENSP00000463810.1:p.Ser83ValfsTer22
ENST00000584915.2:c.243_246dup ENSP00000463810.2:p.Ser83ValfsTer22
ENST00000697039.1:c.132_135dup ENSP00000513061.1:p.Ser46ValfsTer22
ENST00000697040.1:c.132_135dup ENSP00000513062.1:p.Ser46ValfsTer22
ENST00000697042.1:c.132_135dup ENSP00000513064.1:p.Ser46ValfsTer22
ENST00000697043.1:c.132_135dup ENSP00000513065.1:p.Ser46ValfsTer22
XM_005258177.3:c.243_246dup XP_005258234.1:p.Ser83ValfsTer22
XM_005258177.4:c.243_246dup XP_005258234.1:p.Ser83ValfsTer22
XM_005258178.2:c.132_135dup XP_005258235.1:p.Ser46ValfsTer22
XM_005258178.3:c.132_135dup XP_005258235.1:p.Ser46ValfsTer22
XM_005258179.3:c.132_135dup XP_005258236.1:p.Ser46ValfsTer22
XM_005258179.5:c.132_135dup XP_005258236.1:p.Ser46ValfsTer22
XM_017026098.1:c.132_135dup XP_016881587.1:p.Ser46ValfsTer22
XM_017026099.1:c.132_135dup XP_016881588.1:p.Ser46ValfsTer22
XR_935074.1:n.261_264dup
XR_935074.2:n.306_309dup
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