Canonical Allele Identifier: CA1950145617

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390601_6390602delinsGC , CM000673.2:g.6390601_6390602delinsGC	GRCh38
NC_000011.9:g.6411831_6411832delinsGC , CM000673.1:g.6411831_6411832delinsGC	GRCh37
NC_000011.8:g.6368407_6368408delinsGC	NCBI36
NG_011780.1:g.5177_5178delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.3_4delinsGC MANE Select	ENSP00000340409.4:p.Met1=
ENST00000342245.8:c.3_4delinsGC	ENSP00000340409.4:p.Met1=
ENST00000527275.5:c.3_4delinsGC	ENSP00000435350.1:p.Met1=
ENST00000530395.1:c.-134_-133delinsGC	ENSP00000431479.1:n.-134_-133delinsGC
ENST00000531303.5:c.3_4delinsGC	ENSP00000432625.1:p.Met1=
ENST00000533123.5:c.3_4delinsGC	ENSP00000435950.1:p.Met1=
ENST00000533196.1:n.162_163delinsGC
ENST00000534405.5:c.3_4delinsGC	ENSP00000434353.1:p.Met1=
NM_000543.4:c.3_4delinsGC	NP_000534.3:p.Met1=
NM_001007593.2:c.3_4delinsGC	NP_001007594.2:p.Met1=
XM_005253075.3:c.3_4delinsGC	XP_005253132.1:p.Met1=
XM_011520303.1:c.3_4delinsGC	XP_011518605.1:p.Met1=
XM_011520304.1:c.3_4delinsGC	XP_011518606.1:p.Met1=
XR_930886.1:n.301_302delinsGC
NM_001318087.1:c.3_4delinsGC	NP_001305016.1:p.Met1=
NM_001318088.1:c.-959_-958delinsGC	NP_001305017.1:n.-959_-958delinsGC
NM_001365135.1:c.3_4delinsGC	NP_001352064.1:p.Met1=
NR_027400.2:n.188_189delinsGC
NR_134502.1:n.188_189delinsGC
XM_011520304.2:c.3_4delinsGC	XP_011518606.1:p.Met1=
XR_001747940.2:n.128_129delinsGC
XR_002957158.1:n.128_129delinsGC
NM_000543.5:c.3_4delinsGC MANE Select	NP_000534.3:p.Met1=
NM_001007593.3:c.3_4delinsGC	NP_001007594.2:p.Met1=
NM_001318087.2:c.3_4delinsGC	NP_001305016.1:p.Met1=
NM_001318088.2:c.-959_-958delinsGC	NP_001305017.1:n.-959_-958delinsGC
NM_001365135.2:c.3_4delinsGC	NP_001352064.1:p.Met1=
NR_027400.3:n.128_129delinsGC
NR_134502.2:n.128_129delinsGC