Canonical Allele Identifier: CA1950147605

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393095_6393099delinsACTGT , CM000673.2:g.6393095_6393099delinsACTGT	GRCh38
NC_000011.9:g.6414325_6414329delinsACTGT , CM000673.1:g.6414325_6414329delinsACTGT	GRCh37
NC_000011.8:g.6370901_6370905delinsACTGT	NCBI36
NG_011780.1:g.7671_7675delinsACTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-121_1092-117delinsACTGT MANE Select	ENSP00000340409.4:n.1092-121_1092-117deli...
ENST00000342245.8:c.1092-121_1092-117delinsACTGT	ENSP00000340409.4:n.1092-121_1092-117deli...
ENST00000526280.1:c.321-522_321-518delinsACTGT
ENST00000527275.5:c.1089-121_1089-117delinsACTGT	ENSP00000435350.1:n.1089-121_1089-117deli...
ENST00000531303.5:c.439-121_439-117delinsACTGT	ENSP00000432625.1:n.439-121_439-117delins...
ENST00000533123.5:c.1092-522_1092-518delinsACTGT	ENSP00000435950.1:n.1092-522_1092-518deli...
ENST00000534405.5:c.1132-121_1132-117delinsACTGT	ENSP00000434353.1:n.1132-121_1132-117deli...
NM_000543.4:c.1092-121_1092-117delinsACTGT	NP_000534.3:n.1092-121_1092-117delinsACTG...
NM_001007593.2:c.1089-121_1089-117delinsACTGT	NP_001007594.2:n.1089-121_1089-117delinsA...
XM_005253075.3:c.1092-121_1092-117delinsACTGT	XP_005253132.1:n.1092-121_1092-117delinsA...
XM_011520303.1:c.1132-522_1132-518delinsACTGT	XP_011518605.1:n.1132-522_1132-518delinsA...
XM_011520304.1:c.1132-522_1132-518delinsACTGT	XP_011518606.1:n.1132-522_1132-518delinsA...
XR_930886.1:n.1430-121_1430-117delinsACTGT
NM_001318087.1:c.1092-121_1092-117delinsACTGT	NP_001305016.1:n.1092-121_1092-117delinsA...
NM_001318088.1:c.171-121_171-117delinsACTGT	NP_001305017.1:n.171-121_171-117delinsACT...
NM_001365135.1:c.1132-522_1132-518delinsACTGT	NP_001352064.1:n.1132-522_1132-518delinsA...
NR_027400.2:n.1277-522_1277-518delinsACTGT
NR_134502.1:n.624-121_624-117delinsACTGT
XM_011520304.2:c.1132-522_1132-518delinsACTGT	XP_011518606.1:n.1132-522_1132-518delinsA...
XR_001747940.2:n.1257-121_1257-117delinsACTGT
XR_002957158.1:n.1257-121_1257-117delinsACTGT
NM_000543.5:c.1092-121_1092-117delinsACTGT MANE Select	NP_000534.3:n.1092-121_1092-117delinsACTG...
NM_001007593.3:c.1089-121_1089-117delinsACTGT	NP_001007594.2:n.1089-121_1089-117delinsA...
NM_001318087.2:c.1092-121_1092-117delinsACTGT	NP_001305016.1:n.1092-121_1092-117delinsA...
NM_001318088.2:c.171-121_171-117delinsACTGT	NP_001305017.1:n.171-121_171-117delinsACT...
NM_001365135.2:c.1132-522_1132-518delinsACTGT	NP_001352064.1:n.1132-522_1132-518delinsA...
NR_027400.3:n.1217-522_1217-518delinsACTGT
NR_134502.2:n.564-121_564-117delinsACTGT