Canonical Allele Identifier: CA1950146361

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391857_6391858delinsTG , CM000673.2:g.6391857_6391858delinsTG	GRCh38
NC_000011.9:g.6413087_6413088delinsTG , CM000673.1:g.6413087_6413088delinsTG	GRCh37
NC_000011.8:g.6369663_6369664delinsTG	NCBI36
NG_011780.1:g.6433_6434delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.792_793delinsTG MANE Select	ENSP00000340409.4:p.Ser264=
ENST00000342245.8:c.792_793delinsTG	ENSP00000340409.4:p.Ser264=
ENST00000527275.5:c.789_790delinsTG	ENSP00000435350.1:p.Ser263=
ENST00000530395.1:c.-28_-27delinsTG	ENSP00000431479.1:n.-28_-27delinsTG
ENST00000531303.5:c.438+354_438+355delinsTG	ENSP00000432625.1:n.438+354_438+355delinsTG
ENST00000533123.5:c.792_793delinsTG	ENSP00000435950.1:p.Ser264=
ENST00000533196.1:n.375-149_375-148delinsTG
ENST00000534405.5:c.792_793delinsTG	ENSP00000434353.1:p.Ser264=
NM_000543.4:c.792_793delinsTG	NP_000534.3:p.Ser264=
NM_001007593.2:c.789_790delinsTG	NP_001007594.2:p.Ser263=
XM_005253075.3:c.792_793delinsTG	XP_005253132.1:p.Ser264=
XM_011520303.1:c.792_793delinsTG	XP_011518605.1:p.Ser264=
XM_011520304.1:c.792_793delinsTG	XP_011518606.1:p.Ser264=
XR_930886.1:n.1090_1091delinsTG
NM_001318087.1:c.792_793delinsTG	NP_001305016.1:p.Ser264=
NM_001318088.1:c.-170_-169delinsTG	NP_001305017.1:n.-170_-169delinsTG
NM_001365135.1:c.792_793delinsTG	NP_001352064.1:p.Ser264=
NR_027400.2:n.977_978delinsTG
NR_134502.1:n.623+354_623+355delinsTG
XM_011520304.2:c.792_793delinsTG	XP_011518606.1:p.Ser264=
XR_001747940.2:n.917_918delinsTG
XR_002957158.1:n.917_918delinsTG
NM_000543.5:c.792_793delinsTG MANE Select	NP_000534.3:p.Ser264=
NM_001007593.3:c.789_790delinsTG	NP_001007594.2:p.Ser263=
NM_001318087.2:c.792_793delinsTG	NP_001305016.1:p.Ser264=
NM_001318088.2:c.-170_-169delinsTG	NP_001305017.1:n.-170_-169delinsTG
NM_001365135.2:c.792_793delinsTG	NP_001352064.1:p.Ser264=
NR_027400.3:n.917_918delinsTG
NR_134502.2:n.563+354_563+355delinsTG