Canonical Allele Identifier: CA16040691
Gene: LAMB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 370435
ClinVar RCV Id: RCV000410707 RCV000412898
dbSNP Id: rs1057516486
MyVariant Identifiers: chr1:g.209796862del (hg19) chr1:g.209623517del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209623519del , CM000663.2:g.209623519del GRCh38
NC_000001.10:g.209796864del , CM000663.1:g.209796864del GRCh37
NC_000001.9:g.207863487del NCBI36
NG_007116.1:g.33959del

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.2346del MANE Select ENSP00000348384.3:p.Thr783ProfsTer?
ENST00000356082.8:c.2346del ENSP00000348384.3:p.Thr783ProfsTer?
ENST00000367030.7:c.2346del ENSP00000355997.3:p.Thr783ProfsTer?
ENST00000391911.5:c.2346del ENSP00000375778.1:p.Thr783ProfsTer?
NM_000228.2:c.2346del NP_000219.2:p.Thr783ProfsTer?
NM_001017402.1:c.2346del NP_001017402.1:p.Thr783ProfsTer?
NM_001127641.1:c.2346del NP_001121113.1:p.Thr783ProfsTer?
XM_005273124.3:c.2346del XP_005273181.1:p.Thr783ProfsTer?
XM_005273124.4:c.2346del XP_005273181.1:p.Thr783ProfsTer?
XM_017001272.2:c.2154del XP_016856761.1:p.Thr719ProfsTer?
NM_000228.3:c.2346del MANE Select NP_000219.2:p.Thr783ProfsTer?
NM_001017402.2:c.2346del NP_001017402.1:p.Thr783ProfsTer?
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