Canonical Allele Identifier: CA2586967978
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209615300_209615301del , CM000663.2:g.209615300_209615301del GRCh38
NC_000001.10:g.209788645_209788646del , CM000663.1:g.209788645_209788646del GRCh37
NC_000001.9:g.207855268_207855269del NCBI36
NG_007116.1:g.42178_42179del

Transcript Alleles

HGVS Amino-acid change
ENST00000356082.9:c.3492_3493del MANE Select ENSP00000348384.3:p.Val1165AlafsTer?
ENST00000356082.8:c.3492_3493del ENSP00000348384.3:p.Val1165AlafsTer?
ENST00000367030.7:c.3492_3493del ENSP00000355997.3:p.Val1165AlafsTer?
ENST00000391911.5:c.3492_3493del ENSP00000375778.1:p.Val1165AlafsTer?
NM_000228.2:c.3492_3493del NP_000219.2:p.Val1165AlafsTer?
NM_001017402.1:c.3492_3493del NP_001017402.1:p.Val1165AlafsTer?
NM_001127641.1:c.3492_3493del NP_001121113.1:p.Val1165AlafsTer?
XM_005273124.3:c.3492_3493del XP_005273181.1:p.Val1165AlafsTer?
XM_005273124.4:c.3492_3493del XP_005273181.1:p.Val1165AlafsTer?
XM_017001272.2:c.3300_3301del XP_016856761.1:p.Val1101AlafsTer?
NM_000228.3:c.3492_3493del MANE Select NP_000219.2:p.Val1165AlafsTer?
NM_001017402.2:c.3492_3493del NP_001017402.1:p.Val1165AlafsTer?