Canonical Allele Identifier: CA2586964552
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625694_209625695del , CM000663.2:g.209625694_209625695del GRCh38
NC_000001.10:g.209799039_209799040del , CM000663.1:g.209799039_209799040del GRCh37
NC_000001.9:g.207865662_207865663del NCBI36
NG_007116.1:g.31783_31784del

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.1931_1932del MANE Select ENSP00000348384.3:p.Thr644ArgfsTer?
ENST00000356082.8:c.1931_1932del ENSP00000348384.3:p.Thr644ArgfsTer?
ENST00000367030.7:c.1931_1932del ENSP00000355997.3:p.Thr644ArgfsTer?
ENST00000391911.5:c.1931_1932del ENSP00000375778.1:p.Thr644ArgfsTer?
NM_000228.2:c.1931_1932del NP_000219.2:p.Thr644ArgfsTer?
NM_001017402.1:c.1931_1932del NP_001017402.1:p.Thr644ArgfsTer?
NM_001127641.1:c.1931_1932del NP_001121113.1:p.Thr644ArgfsTer?
XM_005273124.3:c.1931_1932del XP_005273181.1:p.Thr644ArgfsTer?
XM_005273124.4:c.1931_1932del XP_005273181.1:p.Thr644ArgfsTer?
XM_017001272.2:c.1739_1740del XP_016856761.1:p.Thr580ArgfsTer?
NM_000228.3:c.1931_1932del MANE Select NP_000219.2:p.Thr644ArgfsTer?
NM_001017402.2:c.1931_1932del NP_001017402.1:p.Thr644ArgfsTer?