Canonical Allele Identifier: CA2740090489
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3007675
ClinVar RCV Id: RCV003864274

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209618649dup , CM000663.2:g.209618649dup GRCh38
NC_000001.10:g.209791994dup , CM000663.1:g.209791994dup GRCh37
NC_000001.9:g.207858617dup NCBI36
NG_007116.1:g.38827dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.2712dup MANE Select ENSP00000348384.3:p.Asp905Ter
ENST00000356082.8:c.2712dup ENSP00000348384.3:p.Asp905Ter
ENST00000367030.7:c.2712dup ENSP00000355997.3:p.Asp905Ter
ENST00000391911.5:c.2712dup ENSP00000375778.1:p.Asp905Ter
ENST00000455193.1:c.-82dup ENSP00000398683.1:n.-82dup
NM_000228.2:c.2712dup NP_000219.2:p.Asp905Ter
NM_001017402.1:c.2712dup NP_001017402.1:p.Asp905Ter
NM_001127641.1:c.2712dup NP_001121113.1:p.Asp905Ter
XM_005273124.3:c.2712dup XP_005273181.1:p.Asp905Ter
XM_005273124.4:c.2712dup XP_005273181.1:p.Asp905Ter
XM_017001272.2:c.2520dup XP_016856761.1:p.Asp841Ter
NM_000228.3:c.2712dup MANE Select NP_000219.2:p.Asp905Ter
NM_001017402.2:c.2712dup NP_001017402.1:p.Asp905Ter