Canonical Allele Identifier: CA2577970280
Gene: LAMP3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183152502del , CM000665.2:g.183152502del GRCh38
NC_000003.11:g.182870290del , CM000665.1:g.182870290del GRCh37
NC_000003.10:g.184352984del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265598.8:c.766del MANE Select ENSP00000265598.3:p.Ser256HisfsTer28
ENST00000265598.7:c.766del ENSP00000265598.3:p.Ser256HisfsTer28
ENST00000466939.1:c.694del ENSP00000418912.1:p.Ser232HisfsTer28
NM_014398.3:c.766del NP_055213.2:p.Ser256HisfsTer28
XM_005247360.3:c.766del XP_005247417.1:p.Ser256HisfsTer28
XM_006713586.2:c.694del XP_006713649.1:p.Ser232HisfsTer28
XM_011512688.1:c.766del XP_011510990.1:p.Ser256HisfsTer28
XR_924123.1:n.826del
XR_924124.1:n.826del
XM_005247360.5:c.766del XP_005247417.1:p.Ser256HisfsTer28
XM_006713586.3:c.694del XP_006713649.1:p.Ser232HisfsTer28
XM_011512688.2:c.766del XP_011510990.1:p.Ser256HisfsTer28
XM_024453453.1:c.694del XP_024309221.1:p.Ser232HisfsTer28
NM_014398.4:c.766del MANE Select NP_055213.2:p.Ser256HisfsTer28