Canonical Allele Identifier: CA2840215355

Gene: LAMB3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617411dup , CM000663.2:g.209617411dup	GRCh38
NC_000001.10:g.209790756dup , CM000663.1:g.209790756dup	GRCh37
NC_000001.9:g.207857379dup	NCBI36
NG_007116.1:g.40065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3227dup MANE Select	ENSP00000348384.3:p.Phe1078IlefsTer2
ENST00000356082.8:c.3227dup	ENSP00000348384.3:p.Phe1078IlefsTer2
ENST00000367030.7:c.3227dup	ENSP00000355997.3:p.Phe1078IlefsTer2
ENST00000391911.5:c.3227dup	ENSP00000375778.1:p.Phe1078IlefsTer2
ENST00000455193.1:c.434dup	ENSP00000398683.1:p.Phe147IlefsTer2
NM_000228.2:c.3227dup	NP_000219.2:p.Phe1078IlefsTer2
NM_001017402.1:c.3227dup	NP_001017402.1:p.Phe1078IlefsTer2
NM_001127641.1:c.3227dup	NP_001121113.1:p.Phe1078IlefsTer2
XM_005273124.3:c.3227dup	XP_005273181.1:p.Phe1078IlefsTer2
XM_005273124.4:c.3227dup	XP_005273181.1:p.Phe1078IlefsTer2
XM_017001272.2:c.3035dup	XP_016856761.1:p.Phe1014IlefsTer2
NM_000228.3:c.3227dup MANE Select	NP_000219.2:p.Phe1078IlefsTer2
NM_001017402.2:c.3227dup	NP_001017402.1:p.Phe1078IlefsTer2