Canonical Allele Identifier: CA658822569

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 558478
• ClinVar RCV Id: RCV000674753
• dbSNP Id: rs1553277686
• MyVariant Identifiers: chr1:g.209629803_209629804del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209629805_209629806del , CM000663.2:g.209629805_209629806del	GRCh38
NC_000001.10:g.209803150_209803151del , CM000663.1:g.209803150_209803151del	GRCh37
NC_000001.9:g.207869773_207869774del	NCBI36
NG_007116.1:g.27672_27673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1065_1066del MANE Select	ENSP00000348384.3:p.Cys355Ter
ENST00000356082.8:c.1065_1066del	ENSP00000348384.3:p.Cys355Ter
ENST00000367030.7:c.1065_1066del	ENSP00000355997.3:p.Cys355Ter
ENST00000391911.5:c.1065_1066del	ENSP00000375778.1:p.Cys355Ter
NM_000228.2:c.1065_1066del	NP_000219.2:p.Cys355Ter
NM_001017402.1:c.1065_1066del	NP_001017402.1:p.Cys355Ter
NM_001127641.1:c.1065_1066del	NP_001121113.1:p.Cys355Ter
XM_005273124.3:c.1065_1066del	XP_005273181.1:p.Cys355Ter
XM_005273124.4:c.1065_1066del	XP_005273181.1:p.Cys355Ter
XM_017001272.2:c.873_874del	XP_016856761.1:p.Cys291Ter
NM_000228.3:c.1065_1066del MANE Select	NP_000219.2:p.Cys355Ter
NM_001017402.2:c.1065_1066del	NP_001017402.1:p.Cys355Ter