Canonical Allele Identifier: CA36756988
Gene: LAMB3 HGNC NCBI

Linked Data

dbSNP Id: rs980634256

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209626960del , CM000663.2:g.209626960del GRCh38
NC_000001.10:g.209800305del , CM000663.1:g.209800305del GRCh37
NC_000001.9:g.207866928del NCBI36
NG_007116.1:g.30516del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.1504del MANE Select ENSP00000348384.3:p.Cys502ValfsTer8
ENST00000356082.8:c.1504del ENSP00000348384.3:p.Cys502ValfsTer8
ENST00000367030.7:c.1504del ENSP00000355997.3:p.Cys502ValfsTer8
ENST00000391911.5:c.1504del ENSP00000375778.1:p.Cys502ValfsTer8
NM_000228.2:c.1504del NP_000219.2:p.Cys502ValfsTer8
NM_001017402.1:c.1504del NP_001017402.1:p.Cys502ValfsTer8
NM_001127641.1:c.1504del NP_001121113.1:p.Cys502ValfsTer8
XM_005273124.3:c.1504del XP_005273181.1:p.Cys502ValfsTer8
XM_005273124.4:c.1504del XP_005273181.1:p.Cys502ValfsTer8
XM_017001272.2:c.1312del XP_016856761.1:p.Cys438ValfsTer8
NM_000228.3:c.1504del MANE Select NP_000219.2:p.Cys502ValfsTer8
NM_001017402.2:c.1504del NP_001017402.1:p.Cys502ValfsTer8