Canonical Allele Identifier: CA2668720112

Gene: LAMP3

Linked Data

• dbSNP Id: rs2108610704
• gnomAD v4: 3-183152399-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152401del , CM000665.2:g.183152401del	GRCh38
NC_000003.11:g.182870189del , CM000665.1:g.182870189del	GRCh37
NC_000003.10:g.184352883del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.863del MANE Select	ENSP00000265598.3:p.Gly288AspfsTer3
ENST00000265598.7:c.863del	ENSP00000265598.3:p.Gly288AspfsTer3
ENST00000466939.1:c.791del	ENSP00000418912.1:p.Gly264AspfsTer3
NM_014398.3:c.863del	NP_055213.2:p.Gly288AspfsTer3
XM_005247360.3:c.863del	XP_005247417.1:p.Gly288AspfsTer3
XM_006713586.2:c.791del	XP_006713649.1:p.Gly264AspfsTer3
XM_011512688.1:c.863del	XP_011510990.1:p.Gly288AspfsTer3
XR_924123.1:n.923del
XR_924124.1:n.923del
XM_005247360.5:c.863del	XP_005247417.1:p.Gly288AspfsTer3
XM_006713586.3:c.791del	XP_006713649.1:p.Gly264AspfsTer3
XM_011512688.2:c.863del	XP_011510990.1:p.Gly288AspfsTer3
XM_024453453.1:c.791del	XP_024309221.1:p.Gly264AspfsTer3
NM_014398.4:c.863del MANE Select	NP_055213.2:p.Gly288AspfsTer3