Canonical Allele Identifier: CA916082106
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 864602
ClinVar RCV Id: RCV001071826
dbSNP Id: rs1666824711

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209634575dup , CM000663.2:g.209634575dup GRCh38
NC_000001.10:g.209807920dup , CM000663.1:g.209807920dup GRCh37
NC_000001.9:g.207874543dup NCBI36
NG_007116.1:g.22901dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.436dup MANE Select ENSP00000348384.3:p.Tyr146LeufsTer?
ENST00000356082.8:c.436dup ENSP00000348384.3:p.Tyr146LeufsTer?
ENST00000367030.7:c.436dup ENSP00000355997.3:p.Tyr146LeufsTer?
ENST00000391911.5:c.436dup ENSP00000375778.1:p.Tyr146LeufsTer?
ENST00000415782.1:c.436dup ENSP00000388960.1:p.Tyr146LeufsTer?
NM_000228.2:c.436dup NP_000219.2:p.Tyr146LeufsTer?
NM_001017402.1:c.436dup NP_001017402.1:p.Tyr146LeufsTer?
NM_001127641.1:c.436dup NP_001121113.1:p.Tyr146LeufsTer?
XM_005273124.3:c.436dup XP_005273181.1:p.Tyr146LeufsTer?
XM_005273124.4:c.436dup XP_005273181.1:p.Tyr146LeufsTer?
XM_017001272.2:c.373-1442dup XP_016856761.1:n.373-1442dup
NM_000228.3:c.436dup MANE Select NP_000219.2:p.Tyr146LeufsTer?
NM_001017402.2:c.436dup NP_001017402.1:p.Tyr146LeufsTer?