Canonical Allele Identifier: CA2580061980

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1726714
• ClinVar RCV Id: RCV002310398
• gnomAD v4: 1-209634632-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209634635del , CM000663.2:g.209634635del	GRCh38
NC_000001.10:g.209807980del , CM000663.1:g.209807980del	GRCh37
NC_000001.9:g.207874603del	NCBI36
NG_007116.1:g.22843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.378del MANE Select	ENSP00000348384.3:p.Met127CysfsTer6
ENST00000356082.8:c.378del	ENSP00000348384.3:p.Met127CysfsTer6
ENST00000367030.7:c.378del	ENSP00000355997.3:p.Met127CysfsTer6
ENST00000391911.5:c.378del	ENSP00000375778.1:p.Met127CysfsTer6
ENST00000415782.1:c.378del	ENSP00000388960.1:p.Met127CysfsTer6
NM_000228.2:c.378del	NP_000219.2:p.Met127CysfsTer6
NM_001017402.1:c.378del	NP_001017402.1:p.Met127CysfsTer6
NM_001127641.1:c.378del	NP_001121113.1:p.Met127CysfsTer6
XM_005273124.3:c.378del	XP_005273181.1:p.Met127CysfsTer6
XM_005273124.4:c.378del	XP_005273181.1:p.Met127CysfsTer6
XM_017001272.2:c.373-1500del	XP_016856761.1:n.373-1500del
NM_000228.3:c.378del MANE Select	NP_000219.2:p.Met127CysfsTer6
NM_001017402.2:c.378del	NP_001017402.1:p.Met127CysfsTer6