Canonical Allele Identifier: CA1375011

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 370321
• ClinVar RCV Id: RCV000410326 ; RCV001385671
• dbSNP Id: rs777292177
• ExAC: 1:209791278 GA / G
• gnomAD v2: 1-209791278-GA-G
• gnomAD v3: 1-209617933-GA-G
• gnomAD v4: 1-209617933-GA-G
• MyVariant Identifiers: chr1:g.209791279del (hg19) ; chr1:g.209617934del (hg38)
• PubMed: PMID:11023379

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209617935del , CM000663.2:g.209617935del	GRCh38
NC_000001.10:g.209791280del , CM000663.1:g.209791280del	GRCh37
NC_000001.9:g.207857903del	NCBI36
NG_007116.1:g.39542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.3024del MANE Select	ENSP00000348384.3:p.Arg1009GlyfsTer21
ENST00000356082.8:c.3024del	ENSP00000348384.3:p.Arg1009GlyfsTer21
ENST00000367030.7:c.3024del	ENSP00000355997.3:p.Arg1009GlyfsTer21
ENST00000391911.5:c.3024del	ENSP00000375778.1:p.Arg1009GlyfsTer21
ENST00000455193.1:c.231del	ENSP00000398683.1:p.Arg78GlyfsTer21
NM_000228.2:c.3024del	NP_000219.2:p.Arg1009GlyfsTer21
NM_001017402.1:c.3024del	NP_001017402.1:p.Arg1009GlyfsTer21
NM_001127641.1:c.3024del	NP_001121113.1:p.Arg1009GlyfsTer21
XM_005273124.3:c.3024del	XP_005273181.1:p.Arg1009GlyfsTer21
XM_005273124.4:c.3024del	XP_005273181.1:p.Arg1009GlyfsTer21
XM_017001272.2:c.2832del	XP_016856761.1:p.Arg945GlyfsTer21
NM_000228.3:c.3024del MANE Select	NP_000219.2:p.Arg1009GlyfsTer21
NM_001017402.2:c.3024del	NP_001017402.1:p.Arg1009GlyfsTer21