Canonical Allele Identifier: CA2668720115

Gene: LAMP3

Linked Data

• gnomAD v4: 3-183152455-C-CTTGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152464_183152468dup , CM000665.2:g.183152464_183152468dup	GRCh38
NC_000003.11:g.182870252_182870256dup , CM000665.1:g.182870252_182870256dup	GRCh37
NC_000003.10:g.184352946_184352950dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.803_807dup MANE Select	ENSP00000265598.3:p.Ala270ArgfsTer16
ENST00000265598.7:c.803_807dup	ENSP00000265598.3:p.Ala270ArgfsTer16
ENST00000466939.1:c.731_735dup	ENSP00000418912.1:p.Ala246ArgfsTer16
NM_014398.3:c.803_807dup	NP_055213.2:p.Ala270ArgfsTer16
XM_005247360.3:c.803_807dup	XP_005247417.1:p.Ala270ArgfsTer16
XM_006713586.2:c.731_735dup	XP_006713649.1:p.Ala246ArgfsTer16
XM_011512688.1:c.803_807dup	XP_011510990.1:p.Ala270ArgfsTer16
XR_924123.1:n.863_867dup
XR_924124.1:n.863_867dup
XM_005247360.5:c.803_807dup	XP_005247417.1:p.Ala270ArgfsTer16
XM_006713586.3:c.731_735dup	XP_006713649.1:p.Ala246ArgfsTer16
XM_011512688.2:c.803_807dup	XP_011510990.1:p.Ala270ArgfsTer16
XM_024453453.1:c.731_735dup	XP_024309221.1:p.Ala246ArgfsTer16
NM_014398.4:c.803_807dup MANE Select	NP_055213.2:p.Ala270ArgfsTer16