Canonical Allele Identifier: CA358700

Gene: LAMB3

Linked Data

• ClinVar Variation Id: 180675
• ClinVar RCV Id: RCV000157635 ; RCV002472954
• dbSNP Id: rs1553275034
• MyVariant Identifiers: chr1:g.209788682_209788689del (hg19) ; chr1:g.209615337_209615344del (hg38)
• PubMed: PMID:16674655 ; PMID:23958762

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209615339_209615346del , CM000663.2:g.209615339_209615346del	GRCh38
NC_000001.10:g.209788684_209788691del , CM000663.1:g.209788684_209788691del	GRCh37
NC_000001.9:g.207855307_207855314del	NCBI36
NG_007116.1:g.42132_42139del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356082.9:c.3446_3453del MANE Select	ENSP00000348384.3:p.Gly1149GlufsTer8
ENST00000356082.8:c.3446_3453del	ENSP00000348384.3:p.Gly1149GlufsTer8
ENST00000367030.7:c.3446_3453del	ENSP00000355997.3:p.Gly1149GlufsTer8
ENST00000391911.5:c.3446_3453del	ENSP00000375778.1:p.Gly1149GlufsTer8
NM_000228.2:c.3446_3453del	NP_000219.2:p.Gly1149GlufsTer8
NM_001017402.1:c.3446_3453del	NP_001017402.1:p.Gly1149GlufsTer8
NM_001127641.1:c.3446_3453del	NP_001121113.1:p.Gly1149GlufsTer8
XM_005273124.3:c.3446_3453del	XP_005273181.1:p.Gly1149GlufsTer8
XM_005273124.4:c.3446_3453del	XP_005273181.1:p.Gly1149GlufsTer8
XM_017001272.2:c.3254_3261del	XP_016856761.1:p.Gly1085GlufsTer8
NM_000228.3:c.3446_3453del MANE Select	NP_000219.2:p.Gly1149GlufsTer8
NM_001017402.2:c.3446_3453del	NP_001017402.1:p.Gly1149GlufsTer8