Canonical Allele Identifier: CA1950146471

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392058_6392060delinsCCC , CM000673.2:g.6392058_6392060delinsCCC	GRCh38
NC_000011.9:g.6413288_6413290delinsCCC , CM000673.1:g.6413288_6413290delinsCCC	GRCh37
NC_000011.8:g.6369864_6369866delinsCCC	NCBI36
NG_011780.1:g.6634_6636delinsCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.993_995delinsCCC MANE Select	ENSP00000340409.4:p.Pro331=
ENST00000342245.8:c.993_995delinsCCC	ENSP00000340409.4:p.Pro331=
ENST00000526280.1:c.182_184delinsCCC
ENST00000527275.5:c.990_992delinsCCC	ENSP00000435350.1:p.Pro330=
ENST00000531303.5:c.438+555_438+557delinsCCC	ENSP00000432625.1:n.438+555_438+557delinsCCC
ENST00000533123.5:c.993_995delinsCCC	ENSP00000435950.1:p.Pro331=
ENST00000534405.5:c.993_995delinsCCC	ENSP00000434353.1:p.Pro331=
NM_000543.4:c.993_995delinsCCC	NP_000534.3:p.Pro331=
NM_001007593.2:c.990_992delinsCCC	NP_001007594.2:p.Pro330=
XM_005253075.3:c.993_995delinsCCC	XP_005253132.1:p.Pro331=
XM_011520303.1:c.993_995delinsCCC	XP_011518605.1:p.Pro331=
XM_011520304.1:c.993_995delinsCCC	XP_011518606.1:p.Pro331=
XR_930886.1:n.1291_1293delinsCCC
NM_001318087.1:c.993_995delinsCCC	NP_001305016.1:p.Pro331=
NM_001318088.1:c.32_34delinsCCC	NP_001305017.1:p.Pro11=
NM_001365135.1:c.993_995delinsCCC	NP_001352064.1:p.Pro331=
NR_027400.2:n.1178_1180delinsCCC
NR_134502.1:n.623+555_623+557delinsCCC
XM_011520304.2:c.993_995delinsCCC	XP_011518606.1:p.Pro331=
XR_001747940.2:n.1118_1120delinsCCC
XR_002957158.1:n.1118_1120delinsCCC
NM_000543.5:c.993_995delinsCCC MANE Select	NP_000534.3:p.Pro331=
NM_001007593.3:c.990_992delinsCCC	NP_001007594.2:p.Pro330=
NM_001318087.2:c.993_995delinsCCC	NP_001305016.1:p.Pro331=
NM_001318088.2:c.32_34delinsCCC	NP_001305017.1:p.Pro11=
NM_001365135.2:c.993_995delinsCCC	NP_001352064.1:p.Pro331=
NR_027400.3:n.1118_1120delinsCCC
NR_134502.2:n.563+555_563+557delinsCCC