Canonical Allele Identifier: CA1950146206

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391591_6391592delinsTG , CM000673.2:g.6391591_6391592delinsTG	GRCh38
NC_000011.9:g.6412821_6412822delinsTG , CM000673.1:g.6412821_6412822delinsTG	GRCh37
NC_000011.8:g.6369397_6369398delinsTG	NCBI36
NG_011780.1:g.6167_6168delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.526_527delinsTG MANE Select	ENSP00000340409.4:p.Trp176=
ENST00000342245.8:c.526_527delinsTG	ENSP00000340409.4:p.Trp176=
ENST00000527275.5:c.523_524delinsTG	ENSP00000435350.1:p.Trp175=
ENST00000530395.1:c.-95-199_-95-198delinsTG	ENSP00000431479.1:n.-95-199_-95-198delinsTG
ENST00000531303.5:c.438+88_438+89delinsTG	ENSP00000432625.1:n.438+88_438+89delinsTG
ENST00000533123.5:c.526_527delinsTG	ENSP00000435950.1:p.Trp176=
ENST00000533196.1:n.375-415_375-414delinsTG
ENST00000534405.5:c.526_527delinsTG	ENSP00000434353.1:p.Trp176=
NM_000543.4:c.526_527delinsTG	NP_000534.3:p.Trp176=
NM_001007593.2:c.523_524delinsTG	NP_001007594.2:p.Trp175=
XM_005253075.3:c.526_527delinsTG	XP_005253132.1:p.Trp176=
XM_011520303.1:c.526_527delinsTG	XP_011518605.1:p.Trp176=
XM_011520304.1:c.526_527delinsTG	XP_011518606.1:p.Trp176=
XR_930886.1:n.824_825delinsTG
NM_001318087.1:c.526_527delinsTG	NP_001305016.1:p.Trp176=
NM_001318088.1:c.-436_-435delinsTG	NP_001305017.1:n.-436_-435delinsTG
NM_001365135.1:c.526_527delinsTG	NP_001352064.1:p.Trp176=
NR_027400.2:n.711_712delinsTG
NR_134502.1:n.623+88_623+89delinsTG
XM_011520304.2:c.526_527delinsTG	XP_011518606.1:p.Trp176=
XR_001747940.2:n.651_652delinsTG
XR_002957158.1:n.651_652delinsTG
NM_000543.5:c.526_527delinsTG MANE Select	NP_000534.3:p.Trp176=
NM_001007593.3:c.523_524delinsTG	NP_001007594.2:p.Trp175=
NM_001318087.2:c.526_527delinsTG	NP_001305016.1:p.Trp176=
NM_001318088.2:c.-436_-435delinsTG	NP_001305017.1:n.-436_-435delinsTG
NM_001365135.2:c.526_527delinsTG	NP_001352064.1:p.Trp176=
NR_027400.3:n.651_652delinsTG
NR_134502.2:n.563+88_563+89delinsTG