Canonical Allele Identifier: CA2484299286
Gene: LAMB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209625947_209625948delinsCA , CM000663.2:g.209625947_209625948delinsCA GRCh38
NC_000001.10:g.209799292_209799293delinsCA , CM000663.1:g.209799292_209799293delinsCA GRCh37
NC_000001.9:g.207865915_207865916delinsCA NCBI36
NG_007116.1:g.31528_31529delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356082.9:c.1676_1677delinsTG MANE Select ENSP00000348384.3:p.Leu559=
ENST00000356082.8:c.1676_1677delinsTG ENSP00000348384.3:p.Leu559=
ENST00000367030.7:c.1676_1677delinsTG ENSP00000355997.3:p.Leu559=
ENST00000391911.5:c.1676_1677delinsTG ENSP00000375778.1:p.Leu559=
NM_000228.2:c.1676_1677delinsTG NP_000219.2:p.Leu559=
NM_001017402.1:c.1676_1677delinsTG NP_001017402.1:p.Leu559=
NM_001127641.1:c.1676_1677delinsTG NP_001121113.1:p.Leu559=
XM_005273124.3:c.1676_1677delinsTG XP_005273181.1:p.Leu559=
XM_005273124.4:c.1676_1677delinsTG XP_005273181.1:p.Leu559=
XM_017001272.2:c.1484_1485delinsTG XP_016856761.1:p.Leu495=
NM_000228.3:c.1676_1677delinsTG MANE Select NP_000219.2:p.Leu559=
NM_001017402.2:c.1676_1677delinsTG NP_001017402.1:p.Leu559=