Canonical Allele Identifier: CA2580083959

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391516_6391517del , CM000673.2:g.6391516_6391517del	GRCh38
NC_000011.9:g.6412746_6412747del , CM000673.1:g.6412746_6412747del	GRCh37
NC_000011.8:g.6369322_6369323del	NCBI36
NG_011780.1:g.6092_6093del

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.451_452del MANE Select	NP_000534.3:p.Val152AlafsTer5
ENST00000342245.9:c.451_452del MANE Select	ENSP00000340409.4:p.Val152AlafsTer5
NM_000543.4:c.451_452del	NP_000534.3:p.Val152AlafsTer5
NM_001007593.2:c.448_449del	NP_001007594.2:p.Val151AlafsTer5
NM_001007593.3:c.448_449del	NP_001007594.2:p.Val151AlafsTer5
NM_001318087.1:c.451_452del	NP_001305016.1:p.Val152AlafsTer5
NM_001318087.2:c.451_452del	NP_001305016.1:p.Val152AlafsTer5
NM_001318088.1:c.-511_-510del	NP_001305017.1:n.-511_-510del
NM_001318088.2:c.-511_-510del	NP_001305017.1:n.-511_-510del
NM_001365135.1:c.451_452del	NP_001352064.1:p.Val152AlafsTer5
NM_001365135.2:c.451_452del	NP_001352064.1:p.Val152AlafsTer5
NR_027400.2:n.636_637del
NR_027400.3:n.576_577del
NR_134502.1:n.623+13_623+14del
NR_134502.2:n.563+13_563+14del
ENST00000342245.8:c.451_452del	ENSP00000340409.4:p.Val152AlafsTer5
ENST00000527275.5:c.448_449del	ENSP00000435350.1:p.Val151AlafsTer5
ENST00000530395.1:c.-95-274_-95-273del	ENSP00000431479.1:n.-95-274_-95-273del
ENST00000531303.5:c.438+13_438+14del	ENSP00000432625.1:n.438+13_438+14del
ENST00000533123.5:c.451_452del	ENSP00000435950.1:p.Val152AlafsTer5
ENST00000533196.1:n.375-490_375-489del
ENST00000534405.5:c.451_452del	ENSP00000434353.1:p.Val152AlafsTer5
XM_005253075.3:c.451_452del	XP_005253132.1:p.Val152AlafsTer5
XM_011520303.1:c.451_452del	XP_011518605.1:p.Val152AlafsTer5
XM_011520304.1:c.451_452del	XP_011518606.1:p.Val152AlafsTer5
XM_011520304.2:c.451_452del	XP_011518606.1:p.Val152AlafsTer5
XR_001747940.2:n.576_577del
XR_002957158.1:n.576_577del
XR_930886.1:n.749_750del