Canonical Allele Identifier: CA2580062016
Community Standard Title: NM_000228.3(LAMB3):c.852_853insCCTAGTA (p.Thr285ProfsTer9)
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209630705_209630706insTACTAGG , CM000663.2:g.209630705_209630706insTACTAGG GRCh38
NC_000001.10:g.209804050_209804051insTACTAGG , CM000663.1:g.209804050_209804051insTACTAGG GRCh37
NC_000001.9:g.207870673_207870674insTACTAGG NCBI36
NG_007116.1:g.26770_26771insCCTAGTA

Transcript Alleles

HGVS Amino-acid Change
NM_000228.3:c.852_853insCCTAGTA MANE Select NP_000219.2:p.Thr285ProfsTer9
ENST00000356082.9:c.852_853insCCTAGTA MANE Select ENSP00000348384.3:p.Thr285ProfsTer9
NM_000228.2:c.852_853insCCTAGTA NP_000219.2:p.Thr285ProfsTer9
NM_001017402.1:c.852_853insCCTAGTA NP_001017402.1:p.Thr285ProfsTer9
NM_001017402.2:c.852_853insCCTAGTA NP_001017402.1:p.Thr285ProfsTer9
NM_001127641.1:c.852_853insCCTAGTA NP_001121113.1:p.Thr285ProfsTer9
ENST00000356082.8:c.852_853insCCTAGTA ENSP00000348384.3:p.Thr285ProfsTer9
ENST00000367030.7:c.852_853insCCTAGTA ENSP00000355997.3:p.Thr285ProfsTer9
ENST00000391911.5:c.852_853insCCTAGTA ENSP00000375778.1:p.Thr285ProfsTer9
XM_005273124.3:c.852_853insCCTAGTA XP_005273181.1:p.Thr285ProfsTer9
XM_005273124.4:c.852_853insCCTAGTA XP_005273181.1:p.Thr285ProfsTer9
XM_017001272.2:c.660_661insCCTAGTA XP_016856761.1:p.Thr221ProfsTer9