Canonical Allele Identifier: CA2484298435

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1047959
• ClinVar RCV Id: RCV001352732
• dbSNP Id: rs1666320034

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209623931del , CM000663.2:g.209623931del	GRCh38
NC_000001.10:g.209797276del , CM000663.1:g.209797276del	GRCh37
NC_000001.9:g.207863899del	NCBI36
NG_007116.1:g.33546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.2047del MANE Select	ENSP00000348384.3:p.Glu683ArgfsTer24
ENST00000356082.8:c.2047del	ENSP00000348384.3:p.Glu683ArgfsTer24
ENST00000367030.7:c.2047del	ENSP00000355997.3:p.Glu683ArgfsTer24
ENST00000391911.5:c.2047del	ENSP00000375778.1:p.Glu683ArgfsTer24
NM_000228.2:c.2047del	NP_000219.2:p.Glu683ArgfsTer24
NM_001017402.1:c.2047del	NP_001017402.1:p.Glu683ArgfsTer24
NM_001127641.1:c.2047del	NP_001121113.1:p.Glu683ArgfsTer24
XM_005273124.3:c.2047del	XP_005273181.1:p.Glu683ArgfsTer24
XM_005273124.4:c.2047del	XP_005273181.1:p.Glu683ArgfsTer24
XM_017001272.2:c.1855del	XP_016856761.1:p.Glu619ArgfsTer24
NM_000228.3:c.2047del MANE Select	NP_000219.2:p.Glu683ArgfsTer24
NM_001017402.2:c.2047del	NP_001017402.1:p.Glu683ArgfsTer24