Canonical Allele Identifier: CA658796402

Gene: LAMP3

Linked Data

• ClinVar Variation Id: 522887
• ClinVar RCV Id: RCV000626078
• dbSNP Id: rs1553873737
• MyVariant Identifiers: chr3:g.182841947_182841948del (hg19) ; chr3:g.183124159_183124160del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183124160_183124161del , CM000665.2:g.183124160_183124161del	GRCh38
NC_000003.11:g.182841948_182841949del , CM000665.1:g.182841948_182841949del	GRCh37
NC_000003.10:g.184324642_184324643del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.1172_1173del MANE Select	ENSP00000265598.3:p.Val391GlyfsTer12
ENST00000265598.7:c.1172_1173del	ENSP00000265598.3:p.Val391GlyfsTer12
ENST00000466939.1:c.1100_1101del	ENSP00000418912.1:p.Val367GlyfsTer12
NM_014398.3:c.1172_1173del	NP_055213.2:p.Val391GlyfsTer12
XR_924123.1:n.1338_1339del
NM_014398.4:c.1172_1173del MANE Select	NP_055213.2:p.Val391GlyfsTer12