Allele Registry

Canonical Allele Identifier: CA16040706

Gene: LAMB3 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.209634511_209634512del

GRCh37 chr1:g.209807856_209807857del

Linked Data - Sequence & Population

gnomAD v4:

chr1-209634510-GCT-G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000409301

RCV000413390

ClinVar Variation:

370111

dbSNP:

1057516241

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209634513_209634514del , CM000663.2:g.209634513_209634514del	GRCh38
NC_000001.10:g.209807858_209807859del , CM000663.1:g.209807858_209807859del	GRCh37
NC_000001.9:g.207874481_207874482del	NCBI36
NG_007116.1:g.22964_22965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356082.9:c.499_500del MANE Select	ENSP00000348384.3:p.Ser167LeufsTer14
ENST00000356082.8:c.499_500del	ENSP00000348384.3:p.Ser167LeufsTer14
ENST00000367030.7:c.499_500del	ENSP00000355997.3:p.Ser167LeufsTer14
ENST00000391911.5:c.499_500del	ENSP00000375778.1:p.Ser167LeufsTer14
ENST00000415782.1:c.499_500del	ENSP00000388960.1:p.Ser167LeufsTer14
NM_000228.2:c.499_500del	NP_000219.2:p.Ser167LeufsTer14
NM_001017402.1:c.499_500del	NP_001017402.1:p.Ser167LeufsTer14
NM_001127641.1:c.499_500del	NP_001121113.1:p.Ser167LeufsTer14
XM_005273124.3:c.499_500del	XP_005273181.1:p.Ser167LeufsTer14
XM_005273124.4:c.499_500del	XP_005273181.1:p.Ser167LeufsTer14
XM_017001272.2:c.373-1379_373-1378del	XP_016856761.1:n.373-1379_373-1378del
NM_000228.3:c.499_500del MANE Select	NP_000219.2:p.Ser167LeufsTer14
NM_001017402.2:c.499_500del	NP_001017402.1:p.Ser167LeufsTer14

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