Canonical Allele Identifier: CA2484299287

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1074943
• ClinVar RCV Id: RCV001388400
• dbSNP Id: rs1666431089
• gnomAD v4: 1-209625947-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625949del , CM000663.2:g.209625949del	GRCh38
NC_000001.10:g.209799294del , CM000663.1:g.209799294del	GRCh37
NC_000001.9:g.207865917del	NCBI36
NG_007116.1:g.31528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1676del MANE Select	ENSP00000348384.3:p.Leu559Ter
ENST00000356082.8:c.1676del	ENSP00000348384.3:p.Leu559Ter
ENST00000367030.7:c.1676del	ENSP00000355997.3:p.Leu559Ter
ENST00000391911.5:c.1676del	ENSP00000375778.1:p.Leu559Ter
NM_000228.2:c.1676del	NP_000219.2:p.Leu559Ter
NM_001017402.1:c.1676del	NP_001017402.1:p.Leu559Ter
NM_001127641.1:c.1676del	NP_001121113.1:p.Leu559Ter
XM_005273124.3:c.1676del	XP_005273181.1:p.Leu559Ter
XM_005273124.4:c.1676del	XP_005273181.1:p.Leu559Ter
XM_017001272.2:c.1484del	XP_016856761.1:p.Leu495Ter
NM_000228.3:c.1676del MANE Select	NP_000219.2:p.Leu559Ter
NM_001017402.2:c.1676del	NP_001017402.1:p.Leu559Ter