Canonical Allele Identifier: CA2580076184

Gene: LAMB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.107932190_107932203del , CM000669.2:g.107932190_107932203del	GRCh38
NC_000007.13:g.107572635_107572648del , CM000669.1:g.107572635_107572648del	GRCh37
NC_000007.12:g.107359871_107359884del	NCBI36
NG_023255.1:g.76157_76170del

Transcript Alleles

HGVS	Amino-acid Change
NM_002291.3:c.4363_4376del MANE Select	NP_002282.2:p.Leu1455ThrfsTer8
ENST00000222399.11:c.4363_4376del MANE Select	ENSP00000222399.6:p.Leu1455ThrfsTer8
NM_002291.2:c.4363_4376del	NP_002282.2:p.Leu1455ThrfsTer8
ENST00000222399.10:c.4363_4376del	ENSP00000222399.6:p.Leu1455ThrfsTer8
ENST00000393561.5:c.4435_4448del	ENSP00000377191.1:p.Leu1479ThrfsTer8
ENST00000393561.6:c.3952_3965del	ENSP00000377191.2:p.Leu1318ThrfsTer8
ENST00000468518.1:n.422_435del
ENST00000468518.2:n.2597_2610del
ENST00000468999.2:n.2511_2524del
ENST00000474380.1:n.600_613del
ENST00000474380.2:n.1178_1191del
ENST00000676574.1:c.*279_*292del	ENSP00000503081.1:n.*279_*292del
ENST00000676777.1:c.4363_4376del	ENSP00000504756.1:p.Leu1455ThrfsTer8
ENST00000677101.1:c.*3999_*4012del	ENSP00000503156.1:n.*3999_*4012del
ENST00000677144.1:c.*1182_*1195del	ENSP00000503049.1:n.*1182_*1195del
ENST00000677485.1:n.5587_5600del
ENST00000677588.1:c.*594_*607del	ENSP00000502938.1:n.*594_*607del
ENST00000677793.1:c.4051_4064del	ENSP00000504020.1:p.Leu1351ThrfsTer8
ENST00000677801.1:c.*192_*205del	ENSP00000503438.1:n.*192_*205del
ENST00000678232.1:n.4552_4565del
ENST00000678310.1:n.2532_2545del
ENST00000678698.1:c.*435_*448del	ENSP00000503198.1:n.*435_*448del
ENST00000678704.1:c.*2945_*2958del	ENSP00000504589.1:n.*2945_*2958del
ENST00000678892.1:c.*435_*448del	ENSP00000504841.1:n.*435_*448del
ENST00000679200.1:c.*435_*448del	ENSP00000503498.1:n.*435_*448del
XM_017012201.1:c.4435_4448del	XP_016867690.1:p.Leu1479ThrfsTer8
XR_001744756.1:n.5282_5295del