Canonical Allele Identifier: CA2684477682

Gene: LAMB1 DLD

Linked Data

• gnomAD v4: 7-107931464-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931468del , CM000669.2:g.107931468del	GRCh38
NC_000007.13:g.107571913del , CM000669.1:g.107571913del	GRCh37
NC_000007.12:g.107359149del	NCBI36
NG_023255.1:g.76895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4428del (LAMB1) MANE Select	ENSP00000222399.6:p.Lys1476AsnfsTer9
ENST00000393561.6:c.4017del (LAMB1)	ENSP00000377191.2:p.Lys1339AsnfsTer9
ENST00000468518.2:n.2662del (LAMB1)
ENST00000468999.2:n.2576del (LAMB1)
ENST00000474380.2:n.1243del (LAMB1)
ENST00000676574.1:c.*344del (LAMB1)	ENSP00000503081.1:n.*344del
ENST00000676744.1:n.274del (LAMB1)
ENST00000676777.1:c.4428del (LAMB1)	ENSP00000504756.1:p.Lys1476AsnfsTer9
ENST00000677101.1:c.*4064del (LAMB1)	ENSP00000503156.1:n.*4064del
ENST00000677144.1:c.*1247del (LAMB1)	ENSP00000503049.1:n.*1247del
ENST00000677485.1:n.5652del (LAMB1)
ENST00000677588.1:c.*659del (LAMB1)	ENSP00000502938.1:n.*659del
ENST00000677793.1:c.4116del (LAMB1)	ENSP00000504020.1:p.Lys1372AsnfsTer9
ENST00000677801.1:c.*257del (LAMB1)	ENSP00000503438.1:n.*257del
ENST00000678232.1:n.4617del (LAMB1)
ENST00000678310.1:n.2597del (LAMB1)
ENST00000678698.1:c.*500del (LAMB1)	ENSP00000503198.1:n.*500del
ENST00000678704.1:c.*3010del (LAMB1)	ENSP00000504589.1:n.*3010del
ENST00000678892.1:c.*500del (LAMB1)	ENSP00000504841.1:n.*500del
ENST00000679200.1:c.*500del (LAMB1)	ENSP00000503498.1:n.*500del
ENST00000222399.10:c.4428del (LAMB1)	ENSP00000222399.6:p.Lys1476AsnfsTer9
ENST00000393561.5:c.4500del (LAMB1)	ENSP00000377191.1:p.Lys1500AsnfsTer9
ENST00000417551.5:c.*162del (DLD)	ENSP00000390667.1:n.*162del
ENST00000468518.1:n.487del (LAMB1)
ENST00000474380.1:n.665del (LAMB1)
NM_002291.2:c.4428del (LAMB1)	NP_002282.2:p.Lys1476AsnfsTer9
XM_017012201.1:c.4500del (LAMB1)	XP_016867690.1:p.Lys1500AsnfsTer9
XR_001744756.1:n.5347del (LAMB1)
NM_002291.3:c.4428del (LAMB1) MANE Select	NP_002282.2:p.Lys1476AsnfsTer9