Canonical Allele Identifier: CA2668720114

Gene: LAMP3

Linked Data

• gnomAD v4: 3-183152430-T-TTTCGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152432_183152437dup , CM000665.2:g.183152432_183152437dup	GRCh38
NC_000003.11:g.182870220_182870225dup , CM000665.1:g.182870220_182870225dup	GRCh37
NC_000003.10:g.184352914_184352919dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.827_832dup MANE Select	ENSP00000265598.3:p.Arg277_Lys278insThrArg
ENST00000265598.7:c.827_832dup	ENSP00000265598.3:p.Arg277_Lys278insThrArg
ENST00000466939.1:c.755_760dup	ENSP00000418912.1:p.Arg253_Lys254insThrArg
NM_014398.3:c.827_832dup	NP_055213.2:p.Arg277_Lys278insThrArg
XM_005247360.3:c.827_832dup	XP_005247417.1:p.Arg277_Lys278insThrArg
XM_006713586.2:c.755_760dup	XP_006713649.1:p.Arg253_Lys254insThrArg
XM_011512688.1:c.827_832dup	XP_011510990.1:p.Arg277_Lys278insThrArg
XR_924123.1:n.887_892dup
XR_924124.1:n.887_892dup
XM_005247360.5:c.827_832dup	XP_005247417.1:p.Arg277_Lys278insThrArg
XM_006713586.3:c.755_760dup	XP_006713649.1:p.Arg253_Lys254insThrArg
XM_011512688.2:c.827_832dup	XP_011510990.1:p.Arg277_Lys278insThrArg
XM_024453453.1:c.755_760dup	XP_024309221.1:p.Arg253_Lys254insThrArg
NM_014398.4:c.827_832dup MANE Select	NP_055213.2:p.Arg277_Lys278insThrArg