Canonical Allele Identifier: CA2747564043
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625793_209625801del , CM000663.2:g.209625793_209625801del GRCh38
NC_000001.10:g.209799138_209799146del , CM000663.1:g.209799138_209799146del GRCh37
NC_000001.9:g.207865761_207865769del NCBI36
NG_007116.1:g.31675_31683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.1823_1831del MANE Select ENSP00000348384.3:p.Ser608_Ser611delinsThr
ENST00000356082.8:c.1823_1831del ENSP00000348384.3:p.Ser608_Ser611delinsThr
ENST00000367030.7:c.1823_1831del ENSP00000355997.3:p.Ser608_Ser611delinsThr
ENST00000391911.5:c.1823_1831del ENSP00000375778.1:p.Ser608_Ser611delinsThr
NM_000228.2:c.1823_1831del NP_000219.2:p.Ser608_Ser611delinsThr
NM_001017402.1:c.1823_1831del NP_001017402.1:p.Ser608_Ser611delinsThr
NM_001127641.1:c.1823_1831del NP_001121113.1:p.Ser608_Ser611delinsThr
XM_005273124.3:c.1823_1831del XP_005273181.1:p.Ser608_Ser611delinsThr
XM_005273124.4:c.1823_1831del XP_005273181.1:p.Ser608_Ser611delinsThr
XM_017001272.2:c.1631_1639del XP_016856761.1:p.Ser544_Ser547delinsThr
NM_000228.3:c.1823_1831del MANE Select NP_000219.2:p.Ser608_Ser611delinsThr
NM_001017402.2:c.1823_1831del NP_001017402.1:p.Ser608_Ser611delinsThr