Canonical Allele Identifier: CA10118607

Gene: LZTR1

Linked Data

• ClinVar Variation Id: 372924
• ClinVar RCV Id: RCV000414560 ; RCV001291506 ; RCV003476002 ; RCV004530514 ; RCV002411278
• dbSNP Id: rs780267761
• ExAC: 22:21344794 GT / G
• gnomAD v2: 22-21344794-GT-G
• gnomAD v3: 22-20990505-GT-G
• gnomAD v4: 22-20990505-GT-G
• MyVariant Identifiers: chr22:g.21344797del (hg19) ; chr22:g.21344795del (hg19) ; chr22:g.20990508del (hg38) ; chr22:g.20990507del (hg38) ; chr22:g.20990506del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20990508del , CM000684.2:g.20990508del	GRCh38
NC_000022.10:g.21344797del , CM000684.1:g.21344797del	GRCh37
NC_000022.9:g.19674797del	NCBI36
NG_034193.1:g.13240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700578.1:c.774del	ENSP00000515073.1:p.Phe258LeufsTer?
ENST00000642151.1:c.605del
ENST00000646124.2:c.774del MANE Select	ENSP00000496779.1:p.Phe258LeufsTer?
ENST00000646506.1:n.353del
ENST00000215739.12:c.774del	ENSP00000215739.8:p.Phe258LeufsTer?
ENST00000414985.5:c.*340del	ENSP00000397247.1:n.*340del
ENST00000479606.5:n.920del
ENST00000480895.1:n.470del
ENST00000497716.5:n.157del
NM_006767.3:c.774del	NP_006758.2:p.Phe258LeufsTer?
NM_006767.4:c.774del MANE Select	NP_006758.2:p.Phe258LeufsTer?