Canonical Allele Identifier: CA548353047

Gene: LAMP3

Linked Data

• dbSNP Id: rs1560313971
• gnomAD v2: 3-182870141-T-TG
• gnomAD v4: 3-183152353-T-TG
• MyVariant Identifiers: chr3:g.182870141_182870142insG (hg19) ; chr3:g.183152353_183152354insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152354dup , CM000665.2:g.183152354dup	GRCh38
NC_000003.11:g.182870142dup , CM000665.1:g.182870142dup	GRCh37
NC_000003.10:g.184352836dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.888+21dup MANE Select	ENSP00000265598.3:n.888+21dup
ENST00000265598.7:c.888+21dup	ENSP00000265598.3:n.888+21dup
ENST00000466939.1:c.816+21dup	ENSP00000418912.1:n.816+21dup
NM_014398.3:c.888+21dup	NP_055213.2:n.888+21dup
XM_005247360.3:c.888+21dup	XP_005247417.1:n.888+21dup
XM_006713586.2:c.816+21dup	XP_006713649.1:n.816+21dup
XM_011512688.1:c.888+21dup	XP_011510990.1:n.888+21dup
XR_924123.1:n.948+21dup
XR_924124.1:n.948+21dup
XM_005247360.5:c.888+21dup	XP_005247417.1:n.888+21dup
XM_006713586.3:c.816+21dup	XP_006713649.1:n.816+21dup
XM_011512688.2:c.888+21dup	XP_011510990.1:n.888+21dup
XM_024453453.1:c.816+21dup	XP_024309221.1:n.816+21dup
NM_014398.4:c.888+21dup MANE Select	NP_055213.2:n.888+21dup