Canonical Allele Identifier: CA2484299246
Gene: LAMB3 HGNC NCBI

Linked Data

dbSNP Id: rs1666420969

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625831dup , CM000663.2:g.209625831dup GRCh38
NC_000001.10:g.209799176dup , CM000663.1:g.209799176dup GRCh37
NC_000001.9:g.207865799dup NCBI36
NG_007116.1:g.31645dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.1793dup MANE Select ENSP00000348384.3:p.Phe599LeufsTer3
ENST00000356082.8:c.1793dup ENSP00000348384.3:p.Phe599LeufsTer3
ENST00000367030.7:c.1793dup ENSP00000355997.3:p.Phe599LeufsTer3
ENST00000391911.5:c.1793dup ENSP00000375778.1:p.Phe599LeufsTer3
NM_000228.2:c.1793dup NP_000219.2:p.Phe599LeufsTer3
NM_001017402.1:c.1793dup NP_001017402.1:p.Phe599LeufsTer3
NM_001127641.1:c.1793dup NP_001121113.1:p.Phe599LeufsTer3
XM_005273124.3:c.1793dup XP_005273181.1:p.Phe599LeufsTer3
XM_005273124.4:c.1793dup XP_005273181.1:p.Phe599LeufsTer3
XM_017001272.2:c.1601dup XP_016856761.1:p.Phe535LeufsTer3
NM_000228.3:c.1793dup MANE Select NP_000219.2:p.Phe599LeufsTer3
NM_001017402.2:c.1793dup NP_001017402.1:p.Phe599LeufsTer3