Canonical Allele Identifier: CA2747561638
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209615365_209615375del , CM000663.2:g.209615365_209615375del GRCh38
NC_000001.10:g.209788710_209788720del , CM000663.1:g.209788710_209788720del GRCh37
NC_000001.9:g.207855333_207855343del NCBI36
NG_007116.1:g.42103_42113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.3417_3427del MANE Select ENSP00000348384.3:p.Ile1140LeufsTer16
ENST00000356082.8:c.3417_3427del ENSP00000348384.3:p.Ile1140LeufsTer16
ENST00000367030.7:c.3417_3427del ENSP00000355997.3:p.Ile1140LeufsTer16
ENST00000391911.5:c.3417_3427del ENSP00000375778.1:p.Ile1140LeufsTer16
NM_000228.2:c.3417_3427del NP_000219.2:p.Ile1140LeufsTer16
NM_001017402.1:c.3417_3427del NP_001017402.1:p.Ile1140LeufsTer16
NM_001127641.1:c.3417_3427del NP_001121113.1:p.Ile1140LeufsTer16
XM_005273124.3:c.3417_3427del XP_005273181.1:p.Ile1140LeufsTer16
XM_005273124.4:c.3417_3427del XP_005273181.1:p.Ile1140LeufsTer16
XM_017001272.2:c.3225_3235del XP_016856761.1:p.Ile1076LeufsTer16
NM_000228.3:c.3417_3427del MANE Select NP_000219.2:p.Ile1140LeufsTer16
NM_001017402.2:c.3417_3427del NP_001017402.1:p.Ile1140LeufsTer16