Canonical Allele Identifier: CA1950147082

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392513_6392516delinsTTTG , CM000673.2:g.6392513_6392516delinsTTTG	GRCh38
NC_000011.9:g.6413743_6413746delinsTTTG , CM000673.1:g.6413743_6413746delinsTTTG	GRCh37
NC_000011.8:g.6370319_6370322delinsTTTG	NCBI36
NG_011780.1:g.7089_7092delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+357_1091+360delinsTTTG MANE Select	ENSP00000340409.4:n.1091+357_1091+360delinsTTTG
ENST00000342245.8:c.1091+357_1091+360delinsTTTG	ENSP00000340409.4:n.1091+357_1091+360delinsTTTG
ENST00000526280.1:c.320+317_320+320delinsTTTG
ENST00000527275.5:c.1088+357_1088+360delinsTTTG	ENSP00000435350.1:n.1088+357_1088+360delinsTTTG
ENST00000531303.5:c.439-703_439-700delinsTTTG	ENSP00000432625.1:n.439-703_439-700delinsTTTG
ENST00000533123.5:c.1091+357_1091+360delinsTTTG	ENSP00000435950.1:n.1091+357_1091+360delinsTTTG
ENST00000534405.5:c.1131+317_1131+320delinsTTTG	ENSP00000434353.1:n.1131+317_1131+320delinsTTTG
NM_000543.4:c.1091+357_1091+360delinsTTTG	NP_000534.3:n.1091+357_1091+360delinsTTTG
NM_001007593.2:c.1088+357_1088+360delinsTTTG	NP_001007594.2:n.1088+357_1088+360delinsTTTG
XM_005253075.3:c.1091+357_1091+360delinsTTTG	XP_005253132.1:n.1091+357_1091+360delinsTTTG
XM_011520303.1:c.1131+317_1131+320delinsTTTG	XP_011518605.1:n.1131+317_1131+320delinsTTTG
XM_011520304.1:c.1131+317_1131+320delinsTTTG	XP_011518606.1:n.1131+317_1131+320delinsTTTG
XR_930886.1:n.1429+317_1429+320delinsTTTG
NM_001318087.1:c.1091+357_1091+360delinsTTTG	NP_001305016.1:n.1091+357_1091+360delinsTTTG
NM_001318088.1:c.170+317_170+320delinsTTTG	NP_001305017.1:n.170+317_170+320delinsTTTG
NM_001365135.1:c.1131+317_1131+320delinsTTTG	NP_001352064.1:n.1131+317_1131+320delinsTTTG
NR_027400.2:n.1276+357_1276+360delinsTTTG
NR_134502.1:n.624-703_624-700delinsTTTG
XM_011520304.2:c.1131+317_1131+320delinsTTTG	XP_011518606.1:n.1131+317_1131+320delinsTTTG
XR_001747940.2:n.1256+317_1256+320delinsTTTG
XR_002957158.1:n.1256+317_1256+320delinsTTTG
NM_000543.5:c.1091+357_1091+360delinsTTTG MANE Select	NP_000534.3:n.1091+357_1091+360delinsTTTG
NM_001007593.3:c.1088+357_1088+360delinsTTTG	NP_001007594.2:n.1088+357_1088+360delinsTTTG
NM_001318087.2:c.1091+357_1091+360delinsTTTG	NP_001305016.1:n.1091+357_1091+360delinsTTTG
NM_001318088.2:c.170+317_170+320delinsTTTG	NP_001305017.1:n.170+317_170+320delinsTTTG
NM_001365135.2:c.1131+317_1131+320delinsTTTG	NP_001352064.1:n.1131+317_1131+320delinsTTTG
NR_027400.3:n.1216+357_1216+360delinsTTTG
NR_134502.2:n.564-703_564-700delinsTTTG