Canonical Allele Identifier: CA1950147581

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393073_6393075delinsGAA , CM000673.2:g.6393073_6393075delinsGAA	GRCh38
NC_000011.9:g.6414303_6414305delinsGAA , CM000673.1:g.6414303_6414305delinsGAA	GRCh37
NC_000011.8:g.6370879_6370881delinsGAA	NCBI36
NG_011780.1:g.7649_7651delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1092-143_1092-141delinsGAA MANE Select	ENSP00000340409.4:n.1092-143_1092-141delinsGAA
ENST00000342245.8:c.1092-143_1092-141delinsGAA	ENSP00000340409.4:n.1092-143_1092-141delinsGAA
ENST00000526280.1:c.321-544_321-542delinsGAA
ENST00000527275.5:c.1089-143_1089-141delinsGAA	ENSP00000435350.1:n.1089-143_1089-141delinsGAA
ENST00000531303.5:c.439-143_439-141delinsGAA	ENSP00000432625.1:n.439-143_439-141delinsGAA
ENST00000533123.5:c.1092-544_1092-542delinsGAA	ENSP00000435950.1:n.1092-544_1092-542delinsGAA
ENST00000534405.5:c.1132-143_1132-141delinsGAA	ENSP00000434353.1:n.1132-143_1132-141delinsGAA
NM_000543.4:c.1092-143_1092-141delinsGAA	NP_000534.3:n.1092-143_1092-141delinsGAA
NM_001007593.2:c.1089-143_1089-141delinsGAA	NP_001007594.2:n.1089-143_1089-141delinsGAA
XM_005253075.3:c.1092-143_1092-141delinsGAA	XP_005253132.1:n.1092-143_1092-141delinsGAA
XM_011520303.1:c.1132-544_1132-542delinsGAA	XP_011518605.1:n.1132-544_1132-542delinsGAA
XM_011520304.1:c.1132-544_1132-542delinsGAA	XP_011518606.1:n.1132-544_1132-542delinsGAA
XR_930886.1:n.1430-143_1430-141delinsGAA
NM_001318087.1:c.1092-143_1092-141delinsGAA	NP_001305016.1:n.1092-143_1092-141delinsGAA
NM_001318088.1:c.171-143_171-141delinsGAA	NP_001305017.1:n.171-143_171-141delinsGAA
NM_001365135.1:c.1132-544_1132-542delinsGAA	NP_001352064.1:n.1132-544_1132-542delinsGAA
NR_027400.2:n.1277-544_1277-542delinsGAA
NR_134502.1:n.624-143_624-141delinsGAA
XM_011520304.2:c.1132-544_1132-542delinsGAA	XP_011518606.1:n.1132-544_1132-542delinsGAA
XR_001747940.2:n.1257-143_1257-141delinsGAA
XR_002957158.1:n.1257-143_1257-141delinsGAA
NM_000543.5:c.1092-143_1092-141delinsGAA MANE Select	NP_000534.3:n.1092-143_1092-141delinsGAA
NM_001007593.3:c.1089-143_1089-141delinsGAA	NP_001007594.2:n.1089-143_1089-141delinsGAA
NM_001318087.2:c.1092-143_1092-141delinsGAA	NP_001305016.1:n.1092-143_1092-141delinsGAA
NM_001318088.2:c.171-143_171-141delinsGAA	NP_001305017.1:n.171-143_171-141delinsGAA
NM_001365135.2:c.1132-544_1132-542delinsGAA	NP_001352064.1:n.1132-544_1132-542delinsGAA
NR_027400.3:n.1217-544_1217-542delinsGAA
NR_134502.2:n.564-143_564-141delinsGAA