Canonical Allele Identifier: CA1950146414

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391957_6391966delinsCTGACCACCG , CM000673.2:g.6391957_6391966delinsCTGACCACCG	GRCh38
NC_000011.9:g.6413187_6413196delinsCTGACCACCG , CM000673.1:g.6413187_6413196delinsCTGACCACCG	GRCh37
NC_000011.8:g.6369763_6369772delinsCTGACCACCG	NCBI36
NG_011780.1:g.6533_6542delinsCTGACCACCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.892_901delinsCTGACCACCG MANE Select	ENSP00000340409.4:p.Leu298=
ENST00000342245.8:c.892_901delinsCTGACCACCG	ENSP00000340409.4:p.Leu298=
ENST00000526280.1:c.81_90delinsCTGACCACCG
ENST00000527275.5:c.889_898delinsCTGACCACCG	ENSP00000435350.1:p.Leu297=
ENST00000530395.1:c.73_82delinsCTGACCACCG	ENSP00000431479.1:p.Leu25=
ENST00000531303.5:c.438+454_438+463delinsCTGACCACCG	ENSP00000432625.1:n.438+454_438+463delins...
ENST00000533123.5:c.892_901delinsCTGACCACCG	ENSP00000435950.1:p.Leu298=
ENST00000533196.1:n.375-49_375-40delinsCTGACCACCG
ENST00000534405.5:c.892_901delinsCTGACCACCG	ENSP00000434353.1:p.Leu298=
NM_000543.4:c.892_901delinsCTGACCACCG	NP_000534.3:p.Leu298=
NM_001007593.2:c.889_898delinsCTGACCACCG	NP_001007594.2:p.Leu297=
XM_005253075.3:c.892_901delinsCTGACCACCG	XP_005253132.1:p.Leu298=
XM_011520303.1:c.892_901delinsCTGACCACCG	XP_011518605.1:p.Leu298=
XM_011520304.1:c.892_901delinsCTGACCACCG	XP_011518606.1:p.Leu298=
XR_930886.1:n.1190_1199delinsCTGACCACCG
NM_001318087.1:c.892_901delinsCTGACCACCG	NP_001305016.1:p.Leu298=
NM_001318088.1:c.-70_-61delinsCTGACCACCG	NP_001305017.1:n.-70_-61delinsCTGACCACCG
NM_001365135.1:c.892_901delinsCTGACCACCG	NP_001352064.1:p.Leu298=
NR_027400.2:n.1077_1086delinsCTGACCACCG
NR_134502.1:n.623+454_623+463delinsCTGACCACCG
XM_011520304.2:c.892_901delinsCTGACCACCG	XP_011518606.1:p.Leu298=
XR_001747940.2:n.1017_1026delinsCTGACCACCG
XR_002957158.1:n.1017_1026delinsCTGACCACCG
NM_000543.5:c.892_901delinsCTGACCACCG MANE Select	NP_000534.3:p.Leu298=
NM_001007593.3:c.889_898delinsCTGACCACCG	NP_001007594.2:p.Leu297=
NM_001318087.2:c.892_901delinsCTGACCACCG	NP_001305016.1:p.Leu298=
NM_001318088.2:c.-70_-61delinsCTGACCACCG	NP_001305017.1:n.-70_-61delinsCTGACCACCG
NM_001365135.2:c.892_901delinsCTGACCACCG	NP_001352064.1:p.Leu298=
NR_027400.3:n.1017_1026delinsCTGACCACCG
NR_134502.2:n.563+454_563+463delinsCTGACCACCG