Canonical Allele Identifier: CA164229536
Community Standard Title: NM_002291.3(LAMB1):c.3946+270del
Gene: LAMB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107936834del , CM000669.2:g.107936834del GRCh38
NC_000007.13:g.107577279del , CM000669.1:g.107577279del GRCh37
NC_000007.12:g.107364515del NCBI36
NG_023255.1:g.71537del

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.3946+270del MANE Select NP_002282.2:n.3946+270del
ENST00000222399.11:c.3946+270del MANE Select ENSP00000222399.6:n.3946+270del
NM_002291.2:c.3946+270del NP_002282.2:n.3946+270del
ENST00000222399.10:c.3946+270del ENSP00000222399.6:n.3946+270del
ENST00000393561.5:c.4018+270del ENSP00000377191.1:n.4018+270del
ENST00000393561.6:c.3535+270del ENSP00000377191.2:n.3535+270del
ENST00000468999.2:n.1999+270del
ENST00000470995.1:n.71+270del
ENST00000474380.1:n.67+270del
ENST00000474380.2:n.761+270del
ENST00000491196.1:n.78+270del
ENST00000491196.2:n.226+270del
ENST00000676574.1:c.3946+270del ENSP00000503081.1:n.3946+270del
ENST00000676777.1:c.3946+270del ENSP00000504756.1:n.3946+270del
ENST00000677101.1:c.*3582+270del ENSP00000503156.1:n.*3582+270del
ENST00000677144.1:c.*765+270del ENSP00000503049.1:n.*765+270del
ENST00000677485.1:n.5170+270del
ENST00000677588.1:c.*177+270del ENSP00000502938.1:n.*177+270del
ENST00000677652.1:n.4135+270del
ENST00000677793.1:c.3634+270del ENSP00000504020.1:n.3634+270del
ENST00000677801.1:c.3535+270del ENSP00000503438.1:n.3535+270del
ENST00000678232.1:n.4135+270del
ENST00000678310.1:n.1999+270del
ENST00000678346.1:c.*3212+270del ENSP00000504349.1:n.*3212+270del
ENST00000678698.1:c.3535+270del ENSP00000503198.1:n.3535+270del
ENST00000678704.1:c.*2528+270del ENSP00000504589.1:n.*2528+270del
ENST00000678892.1:c.3946+270del ENSP00000504841.1:n.3946+270del
ENST00000679173.1:n.4035del
ENST00000679200.1:c.3535+270del ENSP00000503498.1:n.3535+270del
XM_011516203.1:c.3946+270del XP_011514505.1:n.3946+270del
XM_017012201.1:c.4018+270del XP_016867690.1:n.4018+270del
XR_001744756.1:n.4749+270del