Canonical Allele Identifier: CA1950145932

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391048_6391049delinsGT , CM000673.2:g.6391048_6391049delinsGT	GRCh38
NC_000011.9:g.6412278_6412279delinsGT , CM000673.1:g.6412278_6412279delinsGT	GRCh37
NC_000011.8:g.6368854_6368855delinsGT	NCBI36
NG_011780.1:g.5624_5625delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+132_318+133delinsGT MANE Select	ENSP00000340409.4:n.318+132_318+133delinsGT
ENST00000342245.8:c.318+132_318+133delinsGT	ENSP00000340409.4:n.318+132_318+133delinsGT
ENST00000527275.5:c.318+132_318+133delinsGT	ENSP00000435350.1:n.318+132_318+133delinsGT
ENST00000530395.1:c.-96+409_-96+410delinsGT	ENSP00000431479.1:n.-96+409_-96+410delinsGT
ENST00000531303.5:c.318+132_318+133delinsGT	ENSP00000432625.1:n.318+132_318+133delinsGT
ENST00000533123.5:c.318+132_318+133delinsGT	ENSP00000435950.1:n.318+132_318+133delinsGT
ENST00000533196.1:n.374+235_374+236delinsGT
ENST00000534405.5:c.318+132_318+133delinsGT	ENSP00000434353.1:n.318+132_318+133delinsGT
NM_000543.4:c.318+132_318+133delinsGT	NP_000534.3:n.318+132_318+133delinsGT
NM_001007593.2:c.318+132_318+133delinsGT	NP_001007594.2:n.318+132_318+133delinsGT
XM_005253075.3:c.318+132_318+133delinsGT	XP_005253132.1:n.318+132_318+133delinsGT
XM_011520303.1:c.318+132_318+133delinsGT	XP_011518605.1:n.318+132_318+133delinsGT
XM_011520304.1:c.318+132_318+133delinsGT	XP_011518606.1:n.318+132_318+133delinsGT
XR_930886.1:n.616+132_616+133delinsGT
NM_001318087.1:c.318+132_318+133delinsGT	NP_001305016.1:n.318+132_318+133delinsGT
NM_001318088.1:c.-644+132_-644+133delinsGT	NP_001305017.1:n.-644+132_-644+133delinsGT
NM_001365135.1:c.318+132_318+133delinsGT	NP_001352064.1:n.318+132_318+133delinsGT
NR_027400.2:n.503+132_503+133delinsGT
NR_134502.1:n.503+132_503+133delinsGT
XM_011520304.2:c.318+132_318+133delinsGT	XP_011518606.1:n.318+132_318+133delinsGT
XR_001747940.2:n.443+132_443+133delinsGT
XR_002957158.1:n.443+132_443+133delinsGT
NM_000543.5:c.318+132_318+133delinsGT MANE Select	NP_000534.3:n.318+132_318+133delinsGT
NM_001007593.3:c.318+132_318+133delinsGT	NP_001007594.2:n.318+132_318+133delinsGT
NM_001318087.2:c.318+132_318+133delinsGT	NP_001305016.1:n.318+132_318+133delinsGT
NM_001318088.2:c.-644+132_-644+133delinsGT	NP_001305017.1:n.-644+132_-644+133delinsGT
NM_001365135.2:c.318+132_318+133delinsGT	NP_001352064.1:n.318+132_318+133delinsGT
NR_027400.3:n.443+132_443+133delinsGT
NR_134502.2:n.443+132_443+133delinsGT