Canonical Allele Identifier: CA529000305

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1070075
• ClinVar RCV Id: RCV001382102
• dbSNP Id: rs1455026782
• gnomAD v2: 1-209807933-C-CT
• gnomAD v3: 1-209634588-C-CT
• gnomAD v4: 1-209634588-C-CT
• MyVariant Identifiers: chr1:g.209807933_209807934insT (hg19) ; chr1:g.209634588_209634589insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209634590dup , CM000663.2:g.209634590dup	GRCh38
NC_000001.10:g.209807935dup , CM000663.1:g.209807935dup	GRCh37
NC_000001.9:g.207874558dup	NCBI36
NG_007116.1:g.22887dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.422dup MANE Select	ENSP00000348384.3:p.Thr142AspfsTer?
ENST00000356082.8:c.422dup	ENSP00000348384.3:p.Thr142AspfsTer?
ENST00000367030.7:c.422dup	ENSP00000355997.3:p.Thr142AspfsTer?
ENST00000391911.5:c.422dup	ENSP00000375778.1:p.Thr142AspfsTer?
ENST00000415782.1:c.422dup	ENSP00000388960.1:p.Thr142AspfsTer?
NM_000228.2:c.422dup	NP_000219.2:p.Thr142AspfsTer?
NM_001017402.1:c.422dup	NP_001017402.1:p.Thr142AspfsTer?
NM_001127641.1:c.422dup	NP_001121113.1:p.Thr142AspfsTer?
XM_005273124.3:c.422dup	XP_005273181.1:p.Thr142AspfsTer?
XM_005273124.4:c.422dup	XP_005273181.1:p.Thr142AspfsTer?
XM_017001272.2:c.373-1456dup	XP_016856761.1:n.373-1456dup
NM_000228.3:c.422dup MANE Select	NP_000219.2:p.Thr142AspfsTer?
NM_001017402.2:c.422dup	NP_001017402.1:p.Thr142AspfsTer?