Canonical Allele Identifier: CA164265400
Community Standard Title: NM_002291.3(LAMB1):c.5064+283_5064+284dup

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107925912_107925913dup , CM000669.2:g.107925912_107925913dup GRCh38
NC_000007.13:g.107566357_107566358dup , CM000669.1:g.107566357_107566358dup GRCh37
NC_000007.12:g.107353593_107353594dup NCBI36
NG_023255.1:g.82460_82461dup

Transcript Alleles

HGVS Amino-acid Change
NM_002291.3:c.5064+283_5064+284dup (LAMB1) MANE Select NP_002282.2:n.5064+283_5064+284dup
ENST00000222399.11:c.5064+283_5064+284dup (LAMB1) MANE Select ENSP00000222399.6:n.5064+283_5064+284dup
NM_002291.2:c.5064+283_5064+284dup (LAMB1) NP_002282.2:n.5064+283_5064+284dup
ENST00000222399.10:c.5064+283_5064+284dup (LAMB1) ENSP00000222399.6:n.5064+283_5064+284dup
ENST00000393561.5:c.5136+283_5136+284dup (LAMB1) ENSP00000377191.1:n.5136+283_5136+284dup
ENST00000393561.6:c.4653+283_4653+284dup (LAMB1) ENSP00000377191.2:n.4653+283_4653+284dup
ENST00000417551.5:c.*125-5519_*125-5518dup (DLD) ENSP00000390667.1:n.*125-5519_*125-5518dup
ENST00000468518.2:n.3298+283_3298+284dup (LAMB1)
ENST00000468999.2:n.3212+283_3212+284dup (LAMB1)
ENST00000472714.1:n.1091+283_1091+284dup (LAMB1)
ENST00000472714.2:n.535+283_535+284dup (LAMB1)
ENST00000474380.2:n.1879+283_1879+284dup (LAMB1)
ENST00000676574.1:c.*980+283_*980+284dup (LAMB1) ENSP00000503081.1:n.*980+283_*980+284dup
ENST00000676744.1:n.910+283_910+284dup (LAMB1)
ENST00000677101.1:c.*4700+283_*4700+284dup (LAMB1) ENSP00000503156.1:n.*4700+283_*4700+284dup
ENST00000677144.1:c.*1883+283_*1883+284dup (LAMB1) ENSP00000503049.1:n.*1883+283_*1883+284dup
ENST00000677485.1:n.6288+283_6288+284dup (LAMB1)
ENST00000677588.1:c.*1295+283_*1295+284dup (LAMB1) ENSP00000502938.1:n.*1295+283_*1295+284dup
ENST00000677793.1:c.4752+283_4752+284dup (LAMB1) ENSP00000504020.1:n.4752+283_4752+284dup
ENST00000677801.1:c.*893+283_*893+284dup (LAMB1) ENSP00000503438.1:n.*893+283_*893+284dup
ENST00000677957.1:n.2463+283_2463+284dup (LAMB1)
ENST00000678310.1:n.3233+283_3233+284dup (LAMB1)
ENST00000678698.1:c.*1136+283_*1136+284dup (LAMB1) ENSP00000503198.1:n.*1136+283_*1136+284dup
ENST00000678704.1:c.*3646+283_*3646+284dup (LAMB1) ENSP00000504589.1:n.*3646+283_*3646+284dup
ENST00000678892.1:c.*1136+283_*1136+284dup (LAMB1) ENSP00000504841.1:n.*1136+283_*1136+284dup
ENST00000678984.1:n.2450_2451dup (LAMB1)
ENST00000679200.1:c.*1136+283_*1136+284dup (LAMB1) ENSP00000503498.1:n.*1136+283_*1136+284dup
XM_017012201.1:c.5136+283_5136+284dup (LAMB1) XP_016867690.1:n.5136+283_5136+284dup
XR_001744756.1:n.5983+283_5983+284dup (LAMB1)