Canonical Allele Identifier: CA2697554892
Community Standard Title: NM_000228.3(LAMB3):c.1357del (p.Cys453ValfsTer?)
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209627513del , CM000663.2:g.209627513del GRCh38
NC_000001.10:g.209800858del , CM000663.1:g.209800858del GRCh37
NC_000001.9:g.207867481del NCBI36
NG_007116.1:g.29965del

Transcript Alleles

HGVS Amino-acid Change
NM_000228.3:c.1357del MANE Select NP_000219.2:p.Cys453ValfsTer?
ENST00000356082.9:c.1357del MANE Select ENSP00000348384.3:p.Cys453ValfsTer?
NM_000228.2:c.1357del NP_000219.2:p.Cys453ValfsTer?
NM_001017402.1:c.1357del NP_001017402.1:p.Cys453ValfsTer?
NM_001017402.2:c.1357del NP_001017402.1:p.Cys453ValfsTer?
NM_001127641.1:c.1357del NP_001121113.1:p.Cys453ValfsTer?
ENST00000356082.8:c.1357del ENSP00000348384.3:p.Cys453ValfsTer?
ENST00000367030.7:c.1357del ENSP00000355997.3:p.Cys453ValfsTer?
ENST00000391911.5:c.1357del ENSP00000375778.1:p.Cys453ValfsTer?
XM_005273124.3:c.1357del XP_005273181.1:p.Cys453ValfsTer?
XM_005273124.4:c.1357del XP_005273181.1:p.Cys453ValfsTer?
XM_017001272.2:c.1165del XP_016856761.1:p.Cys389ValfsTer?