Canonical Allele Identifier: CA577040237

Gene: LAMB1 DLD

Linked Data

• ClinVar Variation Id: 499514
• ClinVar RCV Id: RCV000598524
• dbSNP Id: rs1275076337
• gnomAD v2: 7-107571928-CAG-C
• gnomAD v3: 7-107931483-CAG-C
• gnomAD v4: 7-107931483-CAG-C
• MyVariant Identifiers: chr7:g.107571929_107571930del (hg19) ; chr7:g.107931484_107931485del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931484_107931485del , CM000669.2:g.107931484_107931485del	GRCh38
NC_000007.13:g.107571929_107571930del , CM000669.1:g.107571929_107571930del	GRCh37
NC_000007.12:g.107359165_107359166del	NCBI36
NG_023255.1:g.76875_76876del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222399.11:c.4408_4409del (LAMB1) MANE Select	ENSP00000222399.6:p.Leu1470GlufsTer4
ENST00000393561.6:c.3997_3998del (LAMB1)	ENSP00000377191.2:p.Leu1333GlufsTer4
ENST00000468518.2:n.2642_2643del (LAMB1)
ENST00000468999.2:n.2556_2557del (LAMB1)
ENST00000474380.2:n.1223_1224del (LAMB1)
ENST00000676574.1:c.*324_*325del (LAMB1)	ENSP00000503081.1:n.*324_*325del
ENST00000676744.1:n.254_255del (LAMB1)
ENST00000676777.1:c.4408_4409del (LAMB1)	ENSP00000504756.1:p.Leu1470GlufsTer4
ENST00000677101.1:c.*4044_*4045del (LAMB1)	ENSP00000503156.1:n.*4044_*4045del
ENST00000677144.1:c.*1227_*1228del (LAMB1)	ENSP00000503049.1:n.*1227_*1228del
ENST00000677485.1:n.5632_5633del (LAMB1)
ENST00000677588.1:c.*639_*640del (LAMB1)	ENSP00000502938.1:n.*639_*640del
ENST00000677793.1:c.4096_4097del (LAMB1)	ENSP00000504020.1:p.Leu1366GlufsTer4
ENST00000677801.1:c.*237_*238del (LAMB1)	ENSP00000503438.1:n.*237_*238del
ENST00000678232.1:n.4597_4598del (LAMB1)
ENST00000678310.1:n.2577_2578del (LAMB1)
ENST00000678698.1:c.*480_*481del (LAMB1)	ENSP00000503198.1:n.*480_*481del
ENST00000678704.1:c.*2990_*2991del (LAMB1)	ENSP00000504589.1:n.*2990_*2991del
ENST00000678892.1:c.*480_*481del (LAMB1)	ENSP00000504841.1:n.*480_*481del
ENST00000679200.1:c.*480_*481del (LAMB1)	ENSP00000503498.1:n.*480_*481del
ENST00000222399.10:c.4408_4409del (LAMB1)	ENSP00000222399.6:p.Leu1470GlufsTer4
ENST00000393561.5:c.4480_4481del (LAMB1)	ENSP00000377191.1:p.Leu1494GlufsTer4
ENST00000417551.5:c.*178_*179del (DLD)	ENSP00000390667.1:n.*178_*179del
ENST00000468518.1:n.467_468del (LAMB1)
ENST00000474380.1:n.645_646del (LAMB1)
NM_002291.2:c.4408_4409del (LAMB1)	NP_002282.2:p.Leu1470GlufsTer4
XM_017012201.1:c.4480_4481del (LAMB1)	XP_016867690.1:p.Leu1494GlufsTer4
XR_001744756.1:n.5327_5328del (LAMB1)
NM_002291.3:c.4408_4409del (LAMB1) MANE Select	NP_002282.2:p.Leu1470GlufsTer4