Canonical Allele Identifier: CA275070

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 195086
• ClinVar RCV Id: RCV000175621 ; RCV000984222 ; RCV000984223 ; RCV001065527 ; RCV001248878
• dbSNP Id: rs794727252
• gnomAD v2: 11-6413075-GAGCCTGTTGAGTGGGCTGGGCCC-G
• gnomAD v3: 11-6391845-GAGCCTGTTGAGTGGGCTGGGCCC-G
• gnomAD v4: 11-6391845-GAGCCTGTTGAGTGGGCTGGGCCC-G
• MyVariant Identifiers: chr11:g.6413080_6413102del (hg19) ; chr11:g.6413076_6413098del (hg19) ; chr11:g.6413080_6413102delTGTTGAGTGGGCTGGGCCCAGCC (hg19) ; chr11:g.6391850_6391872del (hg38) ; chr11:g.6391846_6391868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391850_6391872del , CM000673.2:g.6391850_6391872del	GRCh38
NC_000011.9:g.6413080_6413102del , CM000673.1:g.6413080_6413102del	GRCh37
NC_000011.8:g.6369656_6369678del	NCBI36
NG_011780.1:g.6426_6448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.785_807del MANE Select	ENSP00000340409.4:p.Leu262ArgfsTer4
ENST00000342245.8:c.785_807del	ENSP00000340409.4:p.Leu262ArgfsTer4
ENST00000527275.5:c.782_804del	ENSP00000435350.1:p.Leu261ArgfsTer4
ENST00000530395.1:c.-35_-13del	ENSP00000431479.1:n.-35_-13del
ENST00000531303.5:c.438+347_438+369del	ENSP00000432625.1:n.438+347_438+369del
ENST00000533123.5:c.785_807del	ENSP00000435950.1:p.Leu262ArgfsTer4
ENST00000533196.1:n.375-156_375-134del
ENST00000534405.5:c.785_807del	ENSP00000434353.1:p.Leu262ArgfsTer4
NM_000543.4:c.785_807del	NP_000534.3:p.Leu262ArgfsTer4
NM_001007593.2:c.782_804del	NP_001007594.2:p.Leu261ArgfsTer4
XM_005253075.3:c.785_807del	XP_005253132.1:p.Leu262ArgfsTer4
XM_011520303.1:c.785_807del	XP_011518605.1:p.Leu262ArgfsTer4
XM_011520304.1:c.785_807del	XP_011518606.1:p.Leu262ArgfsTer4
XR_930886.1:n.1083_1105del
NM_001318087.1:c.785_807del	NP_001305016.1:p.Leu262ArgfsTer4
NM_001318088.1:c.-177_-155del	NP_001305017.1:n.-177_-155del
NM_001365135.1:c.785_807del	NP_001352064.1:p.Leu262ArgfsTer4
NR_027400.2:n.970_992del
NR_134502.1:n.623+347_623+369del
XM_011520304.2:c.785_807del	XP_011518606.1:p.Leu262ArgfsTer4
XR_001747940.2:n.910_932del
XR_002957158.1:n.910_932del
NM_000543.5:c.785_807del MANE Select	NP_000534.3:p.Leu262ArgfsTer4
NM_001007593.3:c.782_804del	NP_001007594.2:p.Leu261ArgfsTer4
NM_001318087.2:c.785_807del	NP_001305016.1:p.Leu262ArgfsTer4
NM_001318088.2:c.-177_-155del	NP_001305017.1:n.-177_-155del
NM_001365135.2:c.785_807del	NP_001352064.1:p.Leu262ArgfsTer4
NR_027400.3:n.910_932del
NR_134502.2:n.563+347_563+369del