Canonical Allele Identifier: CA2580061971
Community Standard Title: NM_000228.3(LAMB3):c.528_529delinsT (p.Pro177LeufsTer8)
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209634482_209634483delinsA , CM000663.2:g.209634482_209634483delinsA GRCh38
NC_000001.10:g.209807827_209807828delinsA , CM000663.1:g.209807827_209807828delinsA GRCh37
NC_000001.9:g.207874450_207874451delinsA NCBI36
NG_007116.1:g.22993_22994delinsT

Transcript Alleles

HGVS Amino-acid Change
NM_000228.3:c.528_529delinsT MANE Select NP_000219.2:p.Pro177LeufsTer8
ENST00000356082.9:c.528_529delinsT MANE Select ENSP00000348384.3:p.Pro177LeufsTer8
NM_000228.2:c.528_529delinsT NP_000219.2:p.Pro177LeufsTer8
NM_001017402.1:c.528_529delinsT NP_001017402.1:p.Pro177LeufsTer8
NM_001017402.2:c.528_529delinsT NP_001017402.1:p.Pro177LeufsTer8
NM_001127641.1:c.528_529delinsT NP_001121113.1:p.Pro177LeufsTer8
ENST00000356082.8:c.528_529delinsT ENSP00000348384.3:p.Pro177LeufsTer8
ENST00000367030.7:c.528_529delinsT ENSP00000355997.3:p.Pro177LeufsTer8
ENST00000391911.5:c.528_529delinsT ENSP00000375778.1:p.Pro177LeufsTer8
ENST00000415782.1:c.528_529delinsT ENSP00000388960.1:p.Pro177LeufsTer8
XM_005273124.3:c.528_529delinsT XP_005273181.1:p.Pro177LeufsTer8
XM_005273124.4:c.528_529delinsT XP_005273181.1:p.Pro177LeufsTer8
XM_017001272.2:c.373-1350_373-1349delinsT XP_016856761.1:n.373-1350_373-1349delinsT