Canonical Allele Identifier: CA674328724

Gene: LSP1

Linked Data

• dbSNP Id: rs1215238279
• gnomAD v3: 11-1887552-CCGGCT-C
• gnomAD v4: 11-1887552-CCGGCT-C
• MyVariant Identifiers: chr11:g.1908783_1908787del (hg19) ; chr11:g.1887553_1887557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1887554_1887558del , CM000673.2:g.1887554_1887558del	GRCh38
NC_000011.9:g.1908784_1908788del , CM000673.1:g.1908784_1908788del	GRCh37
NC_000011.8:g.1865360_1865364del	NCBI36
NG_011509.1:g.39585_39589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311604.8:c.1011_1015del MANE Select	ENSP00000308383.4:p.Ala338LeufsTer?
ENST00000311604.7:c.1011_1015del	ENSP00000308383.3:p.Ala338LeufsTer?
ENST00000381775.5:c.1395_1399del	ENSP00000371194.1:p.Ala466LeufsTer?
ENST00000405957.6:c.825_829del	ENSP00000383932.2:p.Ala276LeufsTer?
ENST00000406638.6:c.825_829del	ENSP00000384022.2:p.Ala276LeufsTer?
ENST00000472974.5:n.881_885del
ENST00000485341.5:n.1507_1511del
ENST00000612798.4:c.825_829del	ENSP00000484140.1:p.Ala276LeufsTer?
NM_001013253.1:c.825_829del	NP_001013271.1:p.Ala276LeufsTer?
NM_001013254.1:c.825_829del	NP_001013272.1:p.Ala276LeufsTer?
NM_001013255.1:c.825_829del	NP_001013273.1:p.Ala276LeufsTer?
NM_001242932.1:c.1395_1399del	NP_001229861.1:p.Ala466LeufsTer?
NM_001289005.1:c.825_829del	NP_001275934.1:p.Ala276LeufsTer?
NM_002339.2:c.1011_1015del	NP_002330.1:p.Ala338LeufsTer?
NM_001013253.2:c.825_829del	NP_001013271.1:p.Ala276LeufsTer?
NM_002339.3:c.1011_1015del MANE Select	NP_002330.1:p.Ala338LeufsTer?
NM_001242932.2:c.1395_1399del	NP_001229861.1:p.Ala466LeufsTer?
NM_001289005.2:c.825_829del	NP_001275934.1:p.Ala276LeufsTer?