Canonical Allele Identifier: CA2484309336

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1918600
• ClinVar RCV Id: RCV002602053
• dbSNP Id: rs2076550971

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209649993del , CM000663.2:g.209649993del	GRCh38
NC_000001.10:g.209823338del , CM000663.1:g.209823338del	GRCh37
NC_000001.9:g.207889961del	NCBI36
NG_007116.1:g.7484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.155del MANE Select	ENSP00000348384.3:p.Pro52LeufsTer13
ENST00000356082.8:c.155del	ENSP00000348384.3:p.Pro52LeufsTer13
ENST00000367030.7:c.155del	ENSP00000355997.3:p.Pro52LeufsTer13
ENST00000391911.5:c.155del	ENSP00000375778.1:p.Pro52LeufsTer13
ENST00000415782.1:c.155del	ENSP00000388960.1:p.Pro52LeufsTer13
NM_000228.2:c.155del	NP_000219.2:p.Pro52LeufsTer13
NM_001017402.1:c.155del	NP_001017402.1:p.Pro52LeufsTer13
NM_001127641.1:c.155del	NP_001121113.1:p.Pro52LeufsTer13
XM_005273124.3:c.155del	XP_005273181.1:p.Pro52LeufsTer13
XM_005273124.4:c.155del	XP_005273181.1:p.Pro52LeufsTer13
XM_017001272.2:c.155del	XP_016856761.1:p.Pro52LeufsTer13
NM_000228.3:c.155del MANE Select	NP_000219.2:p.Pro52LeufsTer13
NM_001017402.2:c.155del	NP_001017402.1:p.Pro52LeufsTer13