Canonical Allele Identifier: CA1950147080

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392513_6392517delinsTTTGA , CM000673.2:g.6392513_6392517delinsTTTGA	GRCh38
NC_000011.9:g.6413743_6413747delinsTTTGA , CM000673.1:g.6413743_6413747delinsTTTGA	GRCh37
NC_000011.8:g.6370319_6370323delinsTTTGA	NCBI36
NG_011780.1:g.7089_7093delinsTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+357_1091+361delinsTTTGA MANE Select	ENSP00000340409.4:n.1091+357_1091+361delinsTTTGA
ENST00000342245.8:c.1091+357_1091+361delinsTTTGA	ENSP00000340409.4:n.1091+357_1091+361delinsTTTGA
ENST00000526280.1:c.320+317_320+321delinsTTTGA
ENST00000527275.5:c.1088+357_1088+361delinsTTTGA	ENSP00000435350.1:n.1088+357_1088+361delinsTTTGA
ENST00000531303.5:c.439-703_439-699delinsTTTGA	ENSP00000432625.1:n.439-703_439-699delinsTTTGA
ENST00000533123.5:c.1091+357_1091+361delinsTTTGA	ENSP00000435950.1:n.1091+357_1091+361delinsTTTGA
ENST00000534405.5:c.1131+317_1131+321delinsTTTGA	ENSP00000434353.1:n.1131+317_1131+321delinsTTTGA
NM_000543.4:c.1091+357_1091+361delinsTTTGA	NP_000534.3:n.1091+357_1091+361delinsTTTGA
NM_001007593.2:c.1088+357_1088+361delinsTTTGA	NP_001007594.2:n.1088+357_1088+361delinsTTTGA
XM_005253075.3:c.1091+357_1091+361delinsTTTGA	XP_005253132.1:n.1091+357_1091+361delinsTTTGA
XM_011520303.1:c.1131+317_1131+321delinsTTTGA	XP_011518605.1:n.1131+317_1131+321delinsTTTGA
XM_011520304.1:c.1131+317_1131+321delinsTTTGA	XP_011518606.1:n.1131+317_1131+321delinsTTTGA
XR_930886.1:n.1429+317_1429+321delinsTTTGA
NM_001318087.1:c.1091+357_1091+361delinsTTTGA	NP_001305016.1:n.1091+357_1091+361delinsTTTGA
NM_001318088.1:c.170+317_170+321delinsTTTGA	NP_001305017.1:n.170+317_170+321delinsTTTGA
NM_001365135.1:c.1131+317_1131+321delinsTTTGA	NP_001352064.1:n.1131+317_1131+321delinsTTTGA
NR_027400.2:n.1276+357_1276+361delinsTTTGA
NR_134502.1:n.624-703_624-699delinsTTTGA
XM_011520304.2:c.1131+317_1131+321delinsTTTGA	XP_011518606.1:n.1131+317_1131+321delinsTTTGA
XR_001747940.2:n.1256+317_1256+321delinsTTTGA
XR_002957158.1:n.1256+317_1256+321delinsTTTGA
NM_000543.5:c.1091+357_1091+361delinsTTTGA MANE Select	NP_000534.3:n.1091+357_1091+361delinsTTTGA
NM_001007593.3:c.1088+357_1088+361delinsTTTGA	NP_001007594.2:n.1088+357_1088+361delinsTTTGA
NM_001318087.2:c.1091+357_1091+361delinsTTTGA	NP_001305016.1:n.1091+357_1091+361delinsTTTGA
NM_001318088.2:c.170+317_170+321delinsTTTGA	NP_001305017.1:n.170+317_170+321delinsTTTGA
NM_001365135.2:c.1131+317_1131+321delinsTTTGA	NP_001352064.1:n.1131+317_1131+321delinsTTTGA
NR_027400.3:n.1216+357_1216+361delinsTTTGA
NR_134502.2:n.564-703_564-699delinsTTTGA