Canonical Allele Identifier: CA4435022

Gene: LAMB1 DLD

Linked Data

• ClinVar Variation Id: 2024680
• ClinVar RCV Id: RCV002847874
• dbSNP Id: rs766890037
• ExAC: 7:107571860 A / AT
• gnomAD v2: 7-107571860-A-AT
• gnomAD v4: 7-107931415-A-AT
• MyVariant Identifiers: chr7:g.107571860_107571861insT (hg19) ; chr7:g.107931415_107931416insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931421dup , CM000669.2:g.107931421dup	GRCh38
NC_000007.13:g.107571866dup , CM000669.1:g.107571866dup	GRCh37
NC_000007.12:g.107359102dup	NCBI36
NG_023255.1:g.76944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4477dup (LAMB1) MANE Select	ENSP00000222399.6:p.Met1493AsnfsTer6
ENST00000393561.6:c.4066dup (LAMB1)	ENSP00000377191.2:p.Met1356AsnfsTer6
ENST00000468518.2:n.2711dup (LAMB1)
ENST00000468999.2:n.2625dup (LAMB1)
ENST00000474380.2:n.1292dup (LAMB1)
ENST00000676574.1:c.*393dup (LAMB1)	ENSP00000503081.1:n.*393dup
ENST00000676744.1:n.323dup (LAMB1)
ENST00000676777.1:c.4477dup (LAMB1)	ENSP00000504756.1:p.Met1493AsnfsTer6
ENST00000677101.1:c.*4113dup (LAMB1)	ENSP00000503156.1:n.*4113dup
ENST00000677144.1:c.*1296dup (LAMB1)	ENSP00000503049.1:n.*1296dup
ENST00000677485.1:n.5701dup (LAMB1)
ENST00000677588.1:c.*708dup (LAMB1)	ENSP00000502938.1:n.*708dup
ENST00000677793.1:c.4165dup (LAMB1)	ENSP00000504020.1:p.Met1389AsnfsTer6
ENST00000677801.1:c.*306dup (LAMB1)	ENSP00000503438.1:n.*306dup
ENST00000678232.1:n.4666dup (LAMB1)
ENST00000678310.1:n.2646dup (LAMB1)
ENST00000678698.1:c.*549dup (LAMB1)	ENSP00000503198.1:n.*549dup
ENST00000678704.1:c.*3059dup (LAMB1)	ENSP00000504589.1:n.*3059dup
ENST00000678892.1:c.*549dup (LAMB1)	ENSP00000504841.1:n.*549dup
ENST00000679200.1:c.*549dup (LAMB1)	ENSP00000503498.1:n.*549dup
ENST00000222399.10:c.4477dup (LAMB1)	ENSP00000222399.6:p.Met1493AsnfsTer6
ENST00000393561.5:c.4549dup (LAMB1)	ENSP00000377191.1:p.Met1517AsnfsTer6
ENST00000417551.5:c.*125-10dup (DLD)	ENSP00000390667.1:n.*125-10dup
ENST00000468518.1:n.536dup (LAMB1)
ENST00000474380.1:n.714dup (LAMB1)
NM_002291.2:c.4477dup (LAMB1)	NP_002282.2:p.Met1493AsnfsTer6
XM_017012201.1:c.4549dup (LAMB1)	XP_016867690.1:p.Met1517AsnfsTer6
XR_001744756.1:n.5396dup (LAMB1)
NM_002291.3:c.4477dup (LAMB1) MANE Select	NP_002282.2:p.Met1493AsnfsTer6