Canonical Allele Identifier: CA2719429

Gene: LAMP3

Linked Data

• dbSNP Id: rs768002785
• ExAC: 3:182870225 TG / T
• gnomAD v2: 3-182870225-TG-T
• gnomAD v3: 3-183152437-TG-T
• gnomAD v4: 3-183152437-TG-T
• MyVariant Identifiers: chr3:g.182870226del (hg19) ; chr3:g.183152438del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183152438del , CM000665.2:g.183152438del	GRCh38
NC_000003.11:g.182870226del , CM000665.1:g.182870226del	GRCh37
NC_000003.10:g.184352920del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265598.8:c.825del MANE Select	ENSP00000265598.3:p.Thr276ProfsTer8
ENST00000265598.7:c.825del	ENSP00000265598.3:p.Thr276ProfsTer8
ENST00000466939.1:c.753del	ENSP00000418912.1:p.Thr252ProfsTer8
NM_014398.3:c.825del	NP_055213.2:p.Thr276ProfsTer8
XM_005247360.3:c.825del	XP_005247417.1:p.Thr276ProfsTer8
XM_006713586.2:c.753del	XP_006713649.1:p.Thr252ProfsTer8
XM_011512688.1:c.825del	XP_011510990.1:p.Thr276ProfsTer8
XR_924123.1:n.885del
XR_924124.1:n.885del
XM_005247360.5:c.825del	XP_005247417.1:p.Thr276ProfsTer8
XM_006713586.3:c.753del	XP_006713649.1:p.Thr252ProfsTer8
XM_011512688.2:c.825del	XP_011510990.1:p.Thr276ProfsTer8
XM_024453453.1:c.753del	XP_024309221.1:p.Thr252ProfsTer8
NM_014398.4:c.825del MANE Select	NP_055213.2:p.Thr276ProfsTer8