Canonical Allele Identifier: CA126937550
Community Standard Title: NM_005573.4(LMNB1):c.1719+72del
Gene: LMNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126832873del , CM000667.2:g.126832873del GRCh38
NC_000005.9:g.126168565del , CM000667.1:g.126168565del GRCh37
NC_000005.8:g.126196464del NCBI36
NG_008360.2:g.60733del

Transcript Alleles

HGVS Amino-acid Change
NM_005573.4:c.1719+72del MANE Select NP_005564.1:n.1719+72del
ENST00000261366.10:c.1719+72del MANE Select ENSP00000261366.5:n.1719+72del
NM_001198557.1:c.1089+72del NP_001185486.1:n.1089+72del
NM_001198557.2:c.1089+72del NP_001185486.1:n.1089+72del
NM_005573.3:c.1719+72del NP_005564.1:n.1719+72del
NR_134488.1:n.2683+72del
ENST00000261366.9:c.1719+72del ENSP00000261366.5:n.1719+72del
ENST00000460265.5:c.*807+72del ENSP00000486528.1:n.*807+72del
ENST00000504788.5:n.1452+72del
XR_948250.1:n.2161+72del