Canonical Allele Identifier: CA2573998388
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209617884_209617885del , CM000663.2:g.209617884_209617885del GRCh38
NC_000001.10:g.209791229_209791230del , CM000663.1:g.209791229_209791230del GRCh37
NC_000001.9:g.207857852_207857853del NCBI36
NG_007116.1:g.39592_39593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.3051+23_3051+24del MANE Select ENSP00000348384.3:n.3051+23_3051+24del
ENST00000356082.8:c.3051+23_3051+24del ENSP00000348384.3:n.3051+23_3051+24del
ENST00000367030.7:c.3051+23_3051+24del ENSP00000355997.3:n.3051+23_3051+24del
ENST00000391911.5:c.3051+23_3051+24del ENSP00000375778.1:n.3051+23_3051+24del
ENST00000455193.1:c.258+23_258+24del ENSP00000398683.1:n.258+23_258+24del
NM_000228.2:c.3051+23_3051+24del NP_000219.2:n.3051+23_3051+24del
NM_001017402.1:c.3051+23_3051+24del NP_001017402.1:n.3051+23_3051+24del
NM_001127641.1:c.3051+23_3051+24del NP_001121113.1:n.3051+23_3051+24del
XM_005273124.3:c.3051+23_3051+24del XP_005273181.1:n.3051+23_3051+24del
XM_005273124.4:c.3051+23_3051+24del XP_005273181.1:n.3051+23_3051+24del
XM_017001272.2:c.2859+23_2859+24del XP_016856761.1:n.2859+23_2859+24del
NM_000228.3:c.3051+23_3051+24del MANE Select NP_000219.2:n.3051+23_3051+24del
NM_001017402.2:c.3051+23_3051+24del NP_001017402.1:n.3051+23_3051+24del