Canonical Allele Identifier: CA2573130651

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1421047
• ClinVar RCV Id: RCV001916737
• dbSNP Id: rs2102420949

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625967del , CM000663.2:g.209625967del	GRCh38
NC_000001.10:g.209799312del , CM000663.1:g.209799312del	GRCh37
NC_000001.9:g.207865935del	NCBI36
NG_007116.1:g.31509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1657del MANE Select	ENSP00000348384.3:p.Cys553AlafsTer7
ENST00000356082.8:c.1657del	ENSP00000348384.3:p.Cys553AlafsTer7
ENST00000367030.7:c.1657del	ENSP00000355997.3:p.Cys553AlafsTer7
ENST00000391911.5:c.1657del	ENSP00000375778.1:p.Cys553AlafsTer7
NM_000228.2:c.1657del	NP_000219.2:p.Cys553AlafsTer7
NM_001017402.1:c.1657del	NP_001017402.1:p.Cys553AlafsTer7
NM_001127641.1:c.1657del	NP_001121113.1:p.Cys553AlafsTer7
XM_005273124.3:c.1657del	XP_005273181.1:p.Cys553AlafsTer7
XM_005273124.4:c.1657del	XP_005273181.1:p.Cys553AlafsTer7
XM_017001272.2:c.1465del	XP_016856761.1:p.Cys489AlafsTer7
NM_000228.3:c.1657del MANE Select	NP_000219.2:p.Cys553AlafsTer7
NM_001017402.2:c.1657del	NP_001017402.1:p.Cys553AlafsTer7