Canonical Allele Identifier: CA1950145923

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391038_6391041delinsCCAT , CM000673.2:g.6391038_6391041delinsCCAT	GRCh38
NC_000011.9:g.6412268_6412271delinsCCAT , CM000673.1:g.6412268_6412271delinsCCAT	GRCh37
NC_000011.8:g.6368844_6368847delinsCCAT	NCBI36
NG_011780.1:g.5614_5617delinsCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+122_318+125delinsCCAT MANE Select	ENSP00000340409.4:n.318+122_318+125delinsCCAT
ENST00000342245.8:c.318+122_318+125delinsCCAT	ENSP00000340409.4:n.318+122_318+125delinsCCAT
ENST00000527275.5:c.318+122_318+125delinsCCAT	ENSP00000435350.1:n.318+122_318+125delinsCCAT
ENST00000530395.1:c.-96+399_-96+402delinsCCAT	ENSP00000431479.1:n.-96+399_-96+402delinsCCAT
ENST00000531303.5:c.318+122_318+125delinsCCAT	ENSP00000432625.1:n.318+122_318+125delinsCCAT
ENST00000533123.5:c.318+122_318+125delinsCCAT	ENSP00000435950.1:n.318+122_318+125delinsCCAT
ENST00000533196.1:n.374+225_374+228delinsCCAT
ENST00000534405.5:c.318+122_318+125delinsCCAT	ENSP00000434353.1:n.318+122_318+125delinsCCAT
NM_000543.4:c.318+122_318+125delinsCCAT	NP_000534.3:n.318+122_318+125delinsCCAT
NM_001007593.2:c.318+122_318+125delinsCCAT	NP_001007594.2:n.318+122_318+125delinsCCAT
XM_005253075.3:c.318+122_318+125delinsCCAT	XP_005253132.1:n.318+122_318+125delinsCCAT
XM_011520303.1:c.318+122_318+125delinsCCAT	XP_011518605.1:n.318+122_318+125delinsCCAT
XM_011520304.1:c.318+122_318+125delinsCCAT	XP_011518606.1:n.318+122_318+125delinsCCAT
XR_930886.1:n.616+122_616+125delinsCCAT
NM_001318087.1:c.318+122_318+125delinsCCAT	NP_001305016.1:n.318+122_318+125delinsCCAT
NM_001318088.1:c.-644+122_-644+125delinsCCAT	NP_001305017.1:n.-644+122_-644+125delinsCCAT
NM_001365135.1:c.318+122_318+125delinsCCAT	NP_001352064.1:n.318+122_318+125delinsCCAT
NR_027400.2:n.503+122_503+125delinsCCAT
NR_134502.1:n.503+122_503+125delinsCCAT
XM_011520304.2:c.318+122_318+125delinsCCAT	XP_011518606.1:n.318+122_318+125delinsCCAT
XR_001747940.2:n.443+122_443+125delinsCCAT
XR_002957158.1:n.443+122_443+125delinsCCAT
NM_000543.5:c.318+122_318+125delinsCCAT MANE Select	NP_000534.3:n.318+122_318+125delinsCCAT
NM_001007593.3:c.318+122_318+125delinsCCAT	NP_001007594.2:n.318+122_318+125delinsCCAT
NM_001318087.2:c.318+122_318+125delinsCCAT	NP_001305016.1:n.318+122_318+125delinsCCAT
NM_001318088.2:c.-644+122_-644+125delinsCCAT	NP_001305017.1:n.-644+122_-644+125delinsCCAT
NM_001365135.2:c.318+122_318+125delinsCCAT	NP_001352064.1:n.318+122_318+125delinsCCAT
NR_027400.3:n.443+122_443+125delinsCCAT
NR_134502.2:n.443+122_443+125delinsCCAT