Canonical Allele Identifier: CA1105639055

Gene: LAMB1 DLD

Linked Data

• dbSNP Id: rs2032712933
• gnomAD v3: 7-107931590-AAAACTATGTACTTGGAATCATATGTCTGGG-A
• gnomAD v4: 7-107931590-AAAACTATGTACTTGGAATCATATGTCTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107931595_107931624del , CM000669.2:g.107931595_107931624del	GRCh38
NC_000007.13:g.107572040_107572069del , CM000669.1:g.107572040_107572069del	GRCh37
NC_000007.12:g.107359276_107359305del	NCBI36
NG_023255.1:g.76740_76769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222399.11:c.4393-120_4393-91del (LAMB1) MANE Select	ENSP00000222399.6:n.4393-120_4393-91del
ENST00000393561.6:c.3982-120_3982-91del (LAMB1)	ENSP00000377191.2:n.3982-120_3982-91del
ENST00000468518.2:n.2627-120_2627-91del (LAMB1)
ENST00000468999.2:n.2541-120_2541-91del (LAMB1)
ENST00000474380.2:n.1208-120_1208-91del (LAMB1)
ENST00000676574.1:c.*309-120_*309-91del (LAMB1)	ENSP00000503081.1:n.*309-120_*309-91del
ENST00000676744.1:n.119_148del (LAMB1)
ENST00000676777.1:c.4393-120_4393-91del (LAMB1)	ENSP00000504756.1:n.4393-120_4393-91del
ENST00000677101.1:c.*4029-120_*4029-91del (LAMB1)	ENSP00000503156.1:n.*4029-120_*4029-91del
ENST00000677144.1:c.*1212-120_*1212-91del (LAMB1)	ENSP00000503049.1:n.*1212-120_*1212-91del
ENST00000677485.1:n.5617-120_5617-91del (LAMB1)
ENST00000677588.1:c.*624-120_*624-91del (LAMB1)	ENSP00000502938.1:n.*624-120_*624-91del
ENST00000677793.1:c.4081-120_4081-91del (LAMB1)	ENSP00000504020.1:n.4081-120_4081-91del
ENST00000677801.1:c.*222-120_*222-91del (LAMB1)	ENSP00000503438.1:n.*222-120_*222-91del
ENST00000678232.1:n.4582-120_4582-91del (LAMB1)
ENST00000678310.1:n.2562-120_2562-91del (LAMB1)
ENST00000678698.1:c.*465-120_*465-91del (LAMB1)	ENSP00000503198.1:n.*465-120_*465-91del
ENST00000678704.1:c.*2975-120_*2975-91del (LAMB1)	ENSP00000504589.1:n.*2975-120_*2975-91del
ENST00000678892.1:c.*465-120_*465-91del (LAMB1)	ENSP00000504841.1:n.*465-120_*465-91del
ENST00000679200.1:c.*465-120_*465-91del (LAMB1)	ENSP00000503498.1:n.*465-120_*465-91del
ENST00000222399.10:c.4393-120_4393-91del (LAMB1)	ENSP00000222399.6:n.4393-120_4393-91del
ENST00000393561.5:c.4465-120_4465-91del (LAMB1)	ENSP00000377191.1:n.4465-120_4465-91del
ENST00000417551.5:c.*289_*318del (DLD)	ENSP00000390667.1:n.*289_*318del
ENST00000468518.1:n.452-120_452-91del (LAMB1)
ENST00000474380.1:n.630-120_630-91del (LAMB1)
NM_002291.2:c.4393-120_4393-91del (LAMB1)	NP_002282.2:n.4393-120_4393-91del
XM_017012201.1:c.4465-120_4465-91del (LAMB1)	XP_016867690.1:n.4465-120_4465-91del
XR_001744756.1:n.5312-120_5312-91del (LAMB1)
NM_002291.3:c.4393-120_4393-91del (LAMB1) MANE Select	NP_002282.2:n.4393-120_4393-91del