Canonical Allele Identifier: CA2650323370

Gene: LAMB3

Linked Data

• gnomAD v4: 1-209629806-A-AGTTCTTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629807_209629814dup , CM000663.2:g.209629807_209629814dup	GRCh38
NC_000001.10:g.209803152_209803159dup , CM000663.1:g.209803152_209803159dup	GRCh37
NC_000001.9:g.207869775_207869782dup	NCBI36
NG_007116.1:g.27662_27669dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1055_1062dup MANE Select	ENSP00000348384.3:p.Cys355AlafsTer?
ENST00000356082.8:c.1055_1062dup	ENSP00000348384.3:p.Cys355AlafsTer?
ENST00000367030.7:c.1055_1062dup	ENSP00000355997.3:p.Cys355AlafsTer?
ENST00000391911.5:c.1055_1062dup	ENSP00000375778.1:p.Cys355AlafsTer?
NM_000228.2:c.1055_1062dup	NP_000219.2:p.Cys355AlafsTer?
NM_001017402.1:c.1055_1062dup	NP_001017402.1:p.Cys355AlafsTer?
NM_001127641.1:c.1055_1062dup	NP_001121113.1:p.Cys355AlafsTer?
XM_005273124.3:c.1055_1062dup	XP_005273181.1:p.Cys355AlafsTer?
XM_005273124.4:c.1055_1062dup	XP_005273181.1:p.Cys355AlafsTer?
XM_017001272.2:c.863_870dup	XP_016856761.1:p.Cys291AlafsTer?
NM_000228.3:c.1055_1062dup MANE Select	NP_000219.2:p.Cys355AlafsTer?
NM_001017402.2:c.1055_1062dup	NP_001017402.1:p.Cys355AlafsTer?