Canonical Allele Identifier: CA1375510

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 1804002
• ClinVar RCV Id: RCV002468740 ; RCV002571429
• dbSNP Id: rs747341006
• ExAC: 1:209799340 G / GC
• gnomAD v4: 1-209625995-G-GC
• MyVariant Identifiers: chr1:g.209799340_209799341insC (hg19) ; chr1:g.209625995_209625996insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209625998dup , CM000663.2:g.209625998dup	GRCh38
NC_000001.10:g.209799343dup , CM000663.1:g.209799343dup	GRCh37
NC_000001.9:g.207865966dup	NCBI36
NG_007116.1:g.31480dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.1628dup MANE Select	ENSP00000348384.3:p.Cys546LeufsTer20
ENST00000356082.8:c.1628dup	ENSP00000348384.3:p.Cys546LeufsTer20
ENST00000367030.7:c.1628dup	ENSP00000355997.3:p.Cys546LeufsTer20
ENST00000391911.5:c.1628dup	ENSP00000375778.1:p.Cys546LeufsTer20
NM_000228.2:c.1628dup	NP_000219.2:p.Cys546LeufsTer20
NM_001017402.1:c.1628dup	NP_001017402.1:p.Cys546LeufsTer20
NM_001127641.1:c.1628dup	NP_001121113.1:p.Cys546LeufsTer20
XM_005273124.3:c.1628dup	XP_005273181.1:p.Cys546LeufsTer20
XM_005273124.4:c.1628dup	XP_005273181.1:p.Cys546LeufsTer20
XM_017001272.2:c.1436dup	XP_016856761.1:p.Cys482LeufsTer20
NM_000228.3:c.1628dup MANE Select	NP_000219.2:p.Cys546LeufsTer20
NM_001017402.2:c.1628dup	NP_001017402.1:p.Cys546LeufsTer20