Canonical Allele Identifier: CA1057153641

Gene: LAMP3

Linked Data

• dbSNP Id: rs1720665984
• gnomAD v3: 3-183152407-G-GA
• gnomAD v4: 3-183152407-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152411dup , CM000665.2:g.183152411dup	GRCh38
NC_000003.11:g.182870199dup , CM000665.1:g.182870199dup	GRCh37
NC_000003.10:g.184352893dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.855dup MANE Select	ENSP00000265598.3:p.Gln286SerfsTer13
ENST00000265598.7:c.855dup	ENSP00000265598.3:p.Gln286SerfsTer13
ENST00000466939.1:c.783dup	ENSP00000418912.1:p.Gln262SerfsTer13
NM_014398.3:c.855dup	NP_055213.2:p.Gln286SerfsTer13
XM_005247360.3:c.855dup	XP_005247417.1:p.Gln286SerfsTer13
XM_006713586.2:c.783dup	XP_006713649.1:p.Gln262SerfsTer13
XM_011512688.1:c.855dup	XP_011510990.1:p.Gln286SerfsTer13
XR_924123.1:n.915dup
XR_924124.1:n.915dup
XM_005247360.5:c.855dup	XP_005247417.1:p.Gln286SerfsTer13
XM_006713586.3:c.783dup	XP_006713649.1:p.Gln262SerfsTer13
XM_011512688.2:c.855dup	XP_011510990.1:p.Gln286SerfsTer13
XM_024453453.1:c.783dup	XP_024309221.1:p.Gln262SerfsTer13
NM_014398.4:c.855dup MANE Select	NP_055213.2:p.Gln286SerfsTer13