Canonical Allele Identifier: CA2674699047
Gene: LNPEP HGNC NCBI

Linked Data

gnomAD v4: 5-97015005-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.97015006del , CM000667.2:g.97015006del GRCh38
NC_000005.9:g.96350710del , CM000667.1:g.96350710del GRCh37
NC_000005.8:g.96376466del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000231368.10:c.2287del MANE Select ENSP00000231368.5:p.Ala763HisfsTer30
ENST00000231368.9:c.2287del ENSP00000231368.5:p.Ala763HisfsTer30
ENST00000395770.3:c.2245del ENSP00000379117.3:p.Ala749HisfsTer30
NM_005575.2:c.2287del NP_005566.2:p.Ala763HisfsTer30
NM_175920.3:c.2245del NP_787116.2:p.Ala749HisfsTer30
XM_024446045.1:c.2287del XP_024301813.1:p.Ala763HisfsTer30
NM_005575.3:c.2287del MANE Select NP_005566.2:p.Ala763HisfsTer30
NM_175920.4:c.2245del NP_787116.2:p.Ala749HisfsTer30
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