Canonical Allele Identifier: CA1950147079

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392512_6392516delinsTTTTG , CM000673.2:g.6392512_6392516delinsTTTTG	GRCh38
NC_000011.9:g.6413742_6413746delinsTTTTG , CM000673.1:g.6413742_6413746delinsTTTTG	GRCh37
NC_000011.8:g.6370318_6370322delinsTTTTG	NCBI36
NG_011780.1:g.7088_7092delinsTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+356_1091+360delinsTTTTG MANE Select	ENSP00000340409.4:n.1091+356_1091+360delinsTTTTG
ENST00000342245.8:c.1091+356_1091+360delinsTTTTG	ENSP00000340409.4:n.1091+356_1091+360delinsTTTTG
ENST00000526280.1:c.320+316_320+320delinsTTTTG
ENST00000527275.5:c.1088+356_1088+360delinsTTTTG	ENSP00000435350.1:n.1088+356_1088+360delinsTTTTG
ENST00000531303.5:c.439-704_439-700delinsTTTTG	ENSP00000432625.1:n.439-704_439-700delinsTTTTG
ENST00000533123.5:c.1091+356_1091+360delinsTTTTG	ENSP00000435950.1:n.1091+356_1091+360delinsTTTTG
ENST00000534405.5:c.1131+316_1131+320delinsTTTTG	ENSP00000434353.1:n.1131+316_1131+320delinsTTTTG
NM_000543.4:c.1091+356_1091+360delinsTTTTG	NP_000534.3:n.1091+356_1091+360delinsTTTTG
NM_001007593.2:c.1088+356_1088+360delinsTTTTG	NP_001007594.2:n.1088+356_1088+360delinsTTTTG
XM_005253075.3:c.1091+356_1091+360delinsTTTTG	XP_005253132.1:n.1091+356_1091+360delinsTTTTG
XM_011520303.1:c.1131+316_1131+320delinsTTTTG	XP_011518605.1:n.1131+316_1131+320delinsTTTTG
XM_011520304.1:c.1131+316_1131+320delinsTTTTG	XP_011518606.1:n.1131+316_1131+320delinsTTTTG
XR_930886.1:n.1429+316_1429+320delinsTTTTG
NM_001318087.1:c.1091+356_1091+360delinsTTTTG	NP_001305016.1:n.1091+356_1091+360delinsTTTTG
NM_001318088.1:c.170+316_170+320delinsTTTTG	NP_001305017.1:n.170+316_170+320delinsTTTTG
NM_001365135.1:c.1131+316_1131+320delinsTTTTG	NP_001352064.1:n.1131+316_1131+320delinsTTTTG
NR_027400.2:n.1276+356_1276+360delinsTTTTG
NR_134502.1:n.624-704_624-700delinsTTTTG
XM_011520304.2:c.1131+316_1131+320delinsTTTTG	XP_011518606.1:n.1131+316_1131+320delinsTTTTG
XR_001747940.2:n.1256+316_1256+320delinsTTTTG
XR_002957158.1:n.1256+316_1256+320delinsTTTTG
NM_000543.5:c.1091+356_1091+360delinsTTTTG MANE Select	NP_000534.3:n.1091+356_1091+360delinsTTTTG
NM_001007593.3:c.1088+356_1088+360delinsTTTTG	NP_001007594.2:n.1088+356_1088+360delinsTTTTG
NM_001318087.2:c.1091+356_1091+360delinsTTTTG	NP_001305016.1:n.1091+356_1091+360delinsTTTTG
NM_001318088.2:c.170+316_170+320delinsTTTTG	NP_001305017.1:n.170+316_170+320delinsTTTTG
NM_001365135.2:c.1131+316_1131+320delinsTTTTG	NP_001352064.1:n.1131+316_1131+320delinsTTTTG
NR_027400.3:n.1216+356_1216+360delinsTTTTG
NR_134502.2:n.564-704_564-700delinsTTTTG