Canonical Allele Identifier: CA597263874

Gene: SMPD1

Linked Data

• dbSNP Id: rs1564925075
• gnomAD v2: 11-6413712-CTCCCTTT-C
• gnomAD v3: 11-6392482-CTCCCTTT-C
• gnomAD v4: 11-6392482-CTCCCTTT-C
• MyVariant Identifiers: chr11:g.6413713_6413719del (hg19) ; chr11:g.6392483_6392489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392484_6392490del , CM000673.2:g.6392484_6392490del	GRCh38
NC_000011.9:g.6413714_6413720del , CM000673.1:g.6413714_6413720del	GRCh37
NC_000011.8:g.6370290_6370296del	NCBI36
NG_011780.1:g.7060_7066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+328_1091+334del MANE Select	ENSP00000340409.4:n.1091+328_1091+334del
ENST00000342245.8:c.1091+328_1091+334del	ENSP00000340409.4:n.1091+328_1091+334del
ENST00000526280.1:c.320+288_320+294del
ENST00000527275.5:c.1088+328_1088+334del	ENSP00000435350.1:n.1088+328_1088+334del
ENST00000531303.5:c.439-732_439-726del	ENSP00000432625.1:n.439-732_439-726del
ENST00000533123.5:c.1091+328_1091+334del	ENSP00000435950.1:n.1091+328_1091+334del
ENST00000534405.5:c.1131+288_1131+294del	ENSP00000434353.1:n.1131+288_1131+294del
NM_000543.4:c.1091+328_1091+334del	NP_000534.3:n.1091+328_1091+334del
NM_001007593.2:c.1088+328_1088+334del	NP_001007594.2:n.1088+328_1088+334del
XM_005253075.3:c.1091+328_1091+334del	XP_005253132.1:n.1091+328_1091+334del
XM_011520303.1:c.1131+288_1131+294del	XP_011518605.1:n.1131+288_1131+294del
XM_011520304.1:c.1131+288_1131+294del	XP_011518606.1:n.1131+288_1131+294del
XR_930886.1:n.1429+288_1429+294del
NM_001318087.1:c.1091+328_1091+334del	NP_001305016.1:n.1091+328_1091+334del
NM_001318088.1:c.170+288_170+294del	NP_001305017.1:n.170+288_170+294del
NM_001365135.1:c.1131+288_1131+294del	NP_001352064.1:n.1131+288_1131+294del
NR_027400.2:n.1276+328_1276+334del
NR_134502.1:n.624-732_624-726del
XM_011520304.2:c.1131+288_1131+294del	XP_011518606.1:n.1131+288_1131+294del
XR_001747940.2:n.1256+288_1256+294del
XR_002957158.1:n.1256+288_1256+294del
NM_000543.5:c.1091+328_1091+334del MANE Select	NP_000534.3:n.1091+328_1091+334del
NM_001007593.3:c.1088+328_1088+334del	NP_001007594.2:n.1088+328_1088+334del
NM_001318087.2:c.1091+328_1091+334del	NP_001305016.1:n.1091+328_1091+334del
NM_001318088.2:c.170+288_170+294del	NP_001305017.1:n.170+288_170+294del
NM_001365135.2:c.1131+288_1131+294del	NP_001352064.1:n.1131+288_1131+294del
NR_027400.3:n.1216+328_1216+334del
NR_134502.2:n.564-732_564-726del