Canonical Allele Identifier: CA658683170

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 495060
• ClinVar RCV Id: RCV000585707 ; RCV001388929
• dbSNP Id: rs1553281335
• MyVariant Identifiers: chr1:g.209823416dup (hg19) ; chr1:g.209650071dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209650071dup , CM000663.2:g.209650071dup	GRCh38
NC_000001.10:g.209823416dup , CM000663.1:g.209823416dup	GRCh37
NC_000001.9:g.207890039dup	NCBI36
NG_007116.1:g.7405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.76dup MANE Select	ENSP00000348384.3:p.Cys26LeufsTer28
ENST00000356082.8:c.76dup	ENSP00000348384.3:p.Cys26LeufsTer28
ENST00000367030.7:c.76dup	ENSP00000355997.3:p.Cys26LeufsTer28
ENST00000391911.5:c.76dup	ENSP00000375778.1:p.Cys26LeufsTer28
ENST00000415782.1:c.76dup	ENSP00000388960.1:p.Cys26LeufsTer28
NM_000228.2:c.76dup	NP_000219.2:p.Cys26LeufsTer28
NM_001017402.1:c.76dup	NP_001017402.1:p.Cys26LeufsTer28
NM_001127641.1:c.76dup	NP_001121113.1:p.Cys26LeufsTer28
XM_005273124.3:c.76dup	XP_005273181.1:p.Cys26LeufsTer28
XM_005273124.4:c.76dup	XP_005273181.1:p.Cys26LeufsTer28
XM_017001272.2:c.76dup	XP_016856761.1:p.Cys26LeufsTer28
NM_000228.3:c.76dup MANE Select	NP_000219.2:p.Cys26LeufsTer28
NM_001017402.2:c.76dup	NP_001017402.1:p.Cys26LeufsTer28