Canonical Allele Identifier: CA2740093612

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2952378
• ClinVar RCV Id: RCV003815529

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393676_6393678del , CM000673.2:g.6393676_6393678del	GRCh38
NC_000011.9:g.6414906_6414908del , CM000673.1:g.6414906_6414908del	GRCh37
NC_000011.8:g.6371482_6371484del	NCBI36
NG_011780.1:g.8252_8254del
NG_029615.1:g.30741_30743del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1323_1325del MANE Select	ENSP00000340409.4:p.Tyr442del
ENST00000342245.8:c.1323_1325del	ENSP00000340409.4:p.Tyr442del
ENST00000526280.1:c.380_382del
ENST00000527275.5:c.1320_1322del	ENSP00000435350.1:p.Tyr441del
ENST00000531303.5:c.*154_*156del	ENSP00000432625.1:n.*154_*156del
ENST00000531336.1:n.155_157del
ENST00000532367.1:n.159_161del
ENST00000533123.5:c.*50_*52del	ENSP00000435950.1:n.*50_*52del
ENST00000534405.5:c.*154_*156del	ENSP00000434353.1:n.*154_*156del
NM_000543.4:c.1323_1325del	NP_000534.3:p.Tyr442del
NM_001007593.2:c.1320_1322del	NP_001007594.2:p.Tyr441del
XM_005253075.3:c.1323_1325del	XP_005253132.1:p.Tyr442del
XM_011520303.1:c.1191_1193del	XP_011518605.1:p.Tyr398del
XM_011520304.1:c.1191_1193del	XP_011518606.1:p.Tyr398del
XR_930886.1:n.1661_1663del
NM_001318087.1:c.1323_1325del	NP_001305016.1:p.Tyr442del
NM_001318088.1:c.402_404del	NP_001305017.1:p.Tyr135del
NM_001365135.1:c.1191_1193del	NP_001352064.1:p.Tyr398del
NR_027400.2:n.1336_1338del
NR_134502.1:n.855_857del
XM_011520304.2:c.1191_1193del	XP_011518606.1:p.Tyr398del
XR_001747940.2:n.1488_1490del
XR_002957158.1:n.1488_1490del
NM_000543.5:c.1323_1325del MANE Select	NP_000534.3:p.Tyr442del
NM_001007593.3:c.1320_1322del	NP_001007594.2:p.Tyr441del
NM_001318087.2:c.1323_1325del	NP_001305016.1:p.Tyr442del
NM_001318088.2:c.402_404del	NP_001305017.1:p.Tyr135del
NM_001365135.2:c.1191_1193del	NP_001352064.1:p.Tyr398del
NR_027400.3:n.1276_1278del
NR_134502.2:n.795_797del