Canonical Allele Identifier: CA934768095

Gene: SMPD1

Linked Data

• dbSNP Id: rs1847975995
• gnomAD v3: 11-6392485-CCTTTTTTTT-C
• gnomAD v4: 11-6392485-CCTTTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392486_6392494del , CM000673.2:g.6392486_6392494del	GRCh38
NC_000011.9:g.6413716_6413724del , CM000673.1:g.6413716_6413724del	GRCh37
NC_000011.8:g.6370292_6370300del	NCBI36
NG_011780.1:g.7062_7070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+330_1091+338del MANE Select	ENSP00000340409.4:n.1091+330_1091+338del
ENST00000342245.8:c.1091+330_1091+338del	ENSP00000340409.4:n.1091+330_1091+338del
ENST00000526280.1:c.320+290_320+298del
ENST00000527275.5:c.1088+330_1088+338del	ENSP00000435350.1:n.1088+330_1088+338del
ENST00000531303.5:c.439-730_439-722del	ENSP00000432625.1:n.439-730_439-722del
ENST00000533123.5:c.1091+330_1091+338del	ENSP00000435950.1:n.1091+330_1091+338del
ENST00000534405.5:c.1131+290_1131+298del	ENSP00000434353.1:n.1131+290_1131+298del
NM_000543.4:c.1091+330_1091+338del	NP_000534.3:n.1091+330_1091+338del
NM_001007593.2:c.1088+330_1088+338del	NP_001007594.2:n.1088+330_1088+338del
XM_005253075.3:c.1091+330_1091+338del	XP_005253132.1:n.1091+330_1091+338del
XM_011520303.1:c.1131+290_1131+298del	XP_011518605.1:n.1131+290_1131+298del
XM_011520304.1:c.1131+290_1131+298del	XP_011518606.1:n.1131+290_1131+298del
XR_930886.1:n.1429+290_1429+298del
NM_001318087.1:c.1091+330_1091+338del	NP_001305016.1:n.1091+330_1091+338del
NM_001318088.1:c.170+290_170+298del	NP_001305017.1:n.170+290_170+298del
NM_001365135.1:c.1131+290_1131+298del	NP_001352064.1:n.1131+290_1131+298del
NR_027400.2:n.1276+330_1276+338del
NR_134502.1:n.624-730_624-722del
XM_011520304.2:c.1131+290_1131+298del	XP_011518606.1:n.1131+290_1131+298del
XR_001747940.2:n.1256+290_1256+298del
XR_002957158.1:n.1256+290_1256+298del
NM_000543.5:c.1091+330_1091+338del MANE Select	NP_000534.3:n.1091+330_1091+338del
NM_001007593.3:c.1088+330_1088+338del	NP_001007594.2:n.1088+330_1088+338del
NM_001318087.2:c.1091+330_1091+338del	NP_001305016.1:n.1091+330_1091+338del
NM_001318088.2:c.170+290_170+298del	NP_001305017.1:n.170+290_170+298del
NM_001365135.2:c.1131+290_1131+298del	NP_001352064.1:n.1131+290_1131+298del
NR_027400.3:n.1216+330_1216+338del
NR_134502.2:n.564-730_564-722del