Canonical Allele Identifier: CA2612222474

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392294-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392295_6392296del , CM000673.2:g.6392295_6392296del	GRCh38
NC_000011.9:g.6413525_6413526del , CM000673.1:g.6413525_6413526del	GRCh37
NC_000011.8:g.6370101_6370102del	NCBI36
NG_011780.1:g.6871_6872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+139_1091+140del MANE Select	ENSP00000340409.4:n.1091+139_1091+140del
ENST00000342245.8:c.1091+139_1091+140del	ENSP00000340409.4:n.1091+139_1091+140del
ENST00000526280.1:c.320+99_320+100del
ENST00000527275.5:c.1088+139_1088+140del	ENSP00000435350.1:n.1088+139_1088+140del
ENST00000531303.5:c.438+792_438+793del	ENSP00000432625.1:n.438+792_438+793del
ENST00000533123.5:c.1091+139_1091+140del	ENSP00000435950.1:n.1091+139_1091+140del
ENST00000534405.5:c.1131+99_1131+100del	ENSP00000434353.1:n.1131+99_1131+100del
NM_000543.4:c.1091+139_1091+140del	NP_000534.3:n.1091+139_1091+140del
NM_001007593.2:c.1088+139_1088+140del	NP_001007594.2:n.1088+139_1088+140del
XM_005253075.3:c.1091+139_1091+140del	XP_005253132.1:n.1091+139_1091+140del
XM_011520303.1:c.1131+99_1131+100del	XP_011518605.1:n.1131+99_1131+100del
XM_011520304.1:c.1131+99_1131+100del	XP_011518606.1:n.1131+99_1131+100del
XR_930886.1:n.1429+99_1429+100del
NM_001318087.1:c.1091+139_1091+140del	NP_001305016.1:n.1091+139_1091+140del
NM_001318088.1:c.170+99_170+100del	NP_001305017.1:n.170+99_170+100del
NM_001365135.1:c.1131+99_1131+100del	NP_001352064.1:n.1131+99_1131+100del
NR_027400.2:n.1276+139_1276+140del
NR_134502.1:n.623+792_623+793del
XM_011520304.2:c.1131+99_1131+100del	XP_011518606.1:n.1131+99_1131+100del
XR_001747940.2:n.1256+99_1256+100del
XR_002957158.1:n.1256+99_1256+100del
NM_000543.5:c.1091+139_1091+140del MANE Select	NP_000534.3:n.1091+139_1091+140del
NM_001007593.3:c.1088+139_1088+140del	NP_001007594.2:n.1088+139_1088+140del
NM_001318087.2:c.1091+139_1091+140del	NP_001305016.1:n.1091+139_1091+140del
NM_001318088.2:c.170+99_170+100del	NP_001305017.1:n.170+99_170+100del
NM_001365135.2:c.1131+99_1131+100del	NP_001352064.1:n.1131+99_1131+100del
NR_027400.3:n.1216+139_1216+140del
NR_134502.2:n.563+792_563+793del