Canonical Allele Identifier: CA2695213111

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394224_6394228delinsGCTCTCACGTGGTC , CM000673.2:g.6394224_6394228delinsGCTCTCACGTGGTC	GRCh38
NC_000011.9:g.6415454_6415458delinsGCTCTCACGTGGTC , CM000673.1:g.6415454_6415458delinsGCTCTCACGTGGTC	GRCh37
NC_000011.8:g.6372030_6372034delinsGCTCTCACGTGGTC	NCBI36
NG_011780.1:g.8800_8804delinsGCTCTCACGTGGTC
NG_029615.1:g.30187_30191delinsGACCACGTGAGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1513_1517delinsGCTCTCACGTGGTC MANE Select	ENSP00000340409.4:p.Asn505_Tyr506delinsAlaLeuThrTrpSer
ENST00000342245.8:c.1513_1517delinsGCTCTCACGTGGTC	ENSP00000340409.4:p.Asn505_Tyr506delinsAlaLeuThrTrpSer
ENST00000526280.1:c.570_574delinsGCTCTCACGTGGTC
ENST00000527275.5:c.1510_1514delinsGCTCTCACGTGGTC	ENSP00000435350.1:p.Asn504_Tyr505delinsAlaLeuThrTrpSer
ENST00000531303.5:c.*364_*368delinsGCTCTCACGTGGTC	ENSP00000432625.1:n.*364_*368delinsGCTCTCACGTGGTC
ENST00000531336.1:n.501_505delinsGCTCTCACGTGGTC
ENST00000533123.5:c.*240_*244delinsGCTCTCACGTGGTC	ENSP00000435950.1:n.*240_*244delinsGCTCTCACGTGGTC
ENST00000534405.5:c.*344_*348delinsGCTCTCACGTGGTC	ENSP00000434353.1:n.*344_*348delinsGCTCTCACGTGGTC
NM_000543.4:c.1513_1517delinsGCTCTCACGTGGTC	NP_000534.3:p.Asn505_Tyr506delinsAlaLeuThrTrpSer
NM_001007593.2:c.1510_1514delinsGCTCTCACGTGGTC	NP_001007594.2:p.Asn504_Tyr505delinsAlaLeuThrTrpSer
XM_005253075.3:c.*6_*10delinsGCTCTCACGTGGTC	XP_005253132.1:n.*6_*10delinsGCTCTCACGTGGTC
XM_011520303.1:c.1381_1385delinsGCTCTCACGTGGTC	XP_011518605.1:p.Asn461_Tyr462delinsAlaLeuThrTrpSer
XM_011520304.1:c.*6_*10delinsGCTCTCACGTGGTC	XP_011518606.1:n.*6_*10delinsGCTCTCACGTGGTC
NM_001318087.1:c.*6_*10delinsGCTCTCACGTGGTC	NP_001305016.1:n.*6_*10delinsGCTCTCACGTGGTC
NM_001318088.1:c.592_596delinsGCTCTCACGTGGTC	NP_001305017.1:p.Asn198_Tyr199delinsAlaLeuThrTrpSer
NM_001365135.1:c.1381_1385delinsGCTCTCACGTGGTC	NP_001352064.1:p.Asn461_Tyr462delinsAlaLeuThrTrpSer
NR_027400.2:n.1526_1530delinsGCTCTCACGTGGTC
NR_134502.1:n.1065_1069delinsGCTCTCACGTGGTC
XM_011520304.2:c.*6_*10delinsGCTCTCACGTGGTC	XP_011518606.1:n.*6_*10delinsGCTCTCACGTGGTC
XR_001747940.2:n.1698_1702delinsGCTCTCACGTGGTC
XR_002957158.1:n.1880_1884delinsGCTCTCACGTGGTC
NM_000543.5:c.1513_1517delinsGCTCTCACGTGGTC MANE Select	NP_000534.3:p.Asn505_Tyr506delinsAlaLeuThrTrpSer
NM_001007593.3:c.1510_1514delinsGCTCTCACGTGGTC	NP_001007594.2:p.Asn504_Tyr505delinsAlaLeuThrTrpSer
NM_001318087.2:c.*6_*10delinsGCTCTCACGTGGTC	NP_001305016.1:n.*6_*10delinsGCTCTCACGTGGTC
NM_001318088.2:c.592_596delinsGCTCTCACGTGGTC	NP_001305017.1:p.Asn198_Tyr199delinsAlaLeuThrTrpSer
NM_001365135.2:c.1381_1385delinsGCTCTCACGTGGTC	NP_001352064.1:p.Asn461_Tyr462delinsAlaLeuThrTrpSer
NR_027400.3:n.1466_1470delinsGCTCTCACGTGGTC
NR_134502.2:n.1005_1009delinsGCTCTCACGTGGTC