Canonical Allele Identifier: CA577199178
Community Standard Title: NM_002291.3(LAMB1):c.4730_4732del (p.Glu1577del)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107929430_107929432del , CM000669.2:g.107929430_107929432del GRCh38
NC_000007.13:g.107569875_107569877del , CM000669.1:g.107569875_107569877del GRCh37
NC_000007.12:g.107357111_107357113del NCBI36
NG_023255.1:g.78933_78935del

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.4730_4732del (LAMB1) MANE Select NP_002282.2:p.Glu1577del
ENST00000222399.11:c.4730_4732del (LAMB1) MANE Select ENSP00000222399.6:p.Glu1577del
NM_002291.2:c.4730_4732del (LAMB1) NP_002282.2:p.Glu1577del
ENST00000222399.10:c.4730_4732del (LAMB1) ENSP00000222399.6:p.Glu1577del
ENST00000393561.5:c.4802_4804del (LAMB1) ENSP00000377191.1:p.Glu1601del
ENST00000393561.6:c.4319_4321del (LAMB1) ENSP00000377191.2:p.Glu1440del
ENST00000417551.5:c.*125-2001_*125-1999del (DLD) ENSP00000390667.1:n.*125-2001_*125-1999del
ENST00000468518.2:n.2964_2966del (LAMB1)
ENST00000468999.2:n.2878_2880del (LAMB1)
ENST00000472714.1:n.551_553del (LAMB1)
ENST00000474380.2:n.1545_1547del (LAMB1)
ENST00000676574.1:c.*646_*648del (LAMB1) ENSP00000503081.1:n.*646_*648del
ENST00000676592.1:n.366_368del (LAMB1)
ENST00000676744.1:n.576_578del (LAMB1)
ENST00000676777.1:c.4730_4732del (LAMB1) ENSP00000504756.1:p.Glu1577del
ENST00000677101.1:c.*4366_*4368del (LAMB1) ENSP00000503156.1:n.*4366_*4368del
ENST00000677144.1:c.*1549_*1551del (LAMB1) ENSP00000503049.1:n.*1549_*1551del
ENST00000677485.1:n.5954_5956del (LAMB1)
ENST00000677588.1:c.*961_*963del (LAMB1) ENSP00000502938.1:n.*961_*963del
ENST00000677793.1:c.4418_4420del (LAMB1) ENSP00000504020.1:p.Glu1473del
ENST00000677801.1:c.*559_*561del (LAMB1) ENSP00000503438.1:n.*559_*561del
ENST00000677883.1:n.49-222_49-220del (LAMB1)
ENST00000678310.1:n.2899_2901del (LAMB1)
ENST00000678698.1:c.*802_*804del (LAMB1) ENSP00000503198.1:n.*802_*804del
ENST00000678704.1:c.*3312_*3314del (LAMB1) ENSP00000504589.1:n.*3312_*3314del
ENST00000678892.1:c.*802_*804del (LAMB1) ENSP00000504841.1:n.*802_*804del
ENST00000679200.1:c.*802_*804del (LAMB1) ENSP00000503498.1:n.*802_*804del
XM_017012201.1:c.4802_4804del (LAMB1) XP_016867690.1:p.Glu1601del
XR_001744756.1:n.5649_5651del (LAMB1)