Canonical Allele Identifier: CA16040687
Gene: LAMB3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370323
ClinVar RCV Id: RCV000408972
dbSNP Id: rs1057516400

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209615273_209615274del , CM000663.2:g.209615273_209615274del GRCh38
NC_000001.10:g.209788618_209788619del , CM000663.1:g.209788618_209788619del GRCh37
NC_000001.9:g.207855241_207855242del NCBI36
NG_007116.1:g.42203_42204del

Transcript Alleles

HGVS Amino-acid change
NM_000228.2:c.3517_3518del VV NP_000219.2:p.Ter1173MetextTer?
NM_001017402.1:c.3517_3518del VV NP_001017402.1:p.Ter1173MetextTer?
NM_001127641.1:c.3517_3518del VV NP_001121113.1:p.Ter1173MetextTer?
XM_005273124.3:c.3517_3518del XP_005273181.1:p.Ter1173MetextTer?
XM_005273124.4:c.3517_3518del
XM_017001272.2:c.3325_3326del XP_016856761.1:p.Ter1109MetextTer?
NM_000228.3:c.3517_3518del VV MANE Preferred
ENST00000356082.8:c.3517_3518del ENSP00000348384.3:p.Ter1173MetextTer?
ENST00000367030.7:c.3517_3518del ENSP00000355997.3:p.Ter1173MetextTer?
ENST00000391911.5:c.3517_3518del ENSP00000375778.1:p.Ter1173MetextTer?