Canonical Allele Identifier: CA597438206

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2270234
• ClinVar RCV Id: RCV002804611
• dbSNP Id: rs1564927831
• gnomAD v2: 11-6415653-CCTT-C
• gnomAD v3: 11-6394423-CCTT-C
• gnomAD v4: 11-6394423-CCTT-C
• MyVariant Identifiers: chr11:g.6415654_6415656del (hg19) ; chr11:g.6394424_6394426del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394426_6394428del , CM000673.2:g.6394426_6394428del	GRCh38
NC_000011.9:g.6415656_6415658del , CM000673.1:g.6415656_6415658del	GRCh37
NC_000011.8:g.6372232_6372234del	NCBI36
NG_011780.1:g.9002_9004del
NG_029615.1:g.29989_29991del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1715_1717del MANE Select	ENSP00000340409.4:p.Phe572del
ENST00000342245.8:c.1715_1717del	ENSP00000340409.4:p.Phe572del
ENST00000526280.1:c.772_774del
ENST00000527275.5:c.1712_1714del	ENSP00000435350.1:p.Phe571del
ENST00000531303.5:c.*566_*568del	ENSP00000432625.1:n.*566_*568del
ENST00000533123.5:c.*442_*444del	ENSP00000435950.1:n.*442_*444del
ENST00000534405.5:c.*546_*548del	ENSP00000434353.1:n.*546_*548del
NM_000543.4:c.1715_1717del	NP_000534.3:p.Phe572del
NM_001007593.2:c.1712_1714del	NP_001007594.2:p.Phe571del
XM_005253075.3:c.*208_*210del	XP_005253132.1:n.*208_*210del
XM_011520303.1:c.1583_1585del	XP_011518605.1:p.Phe528del
XM_011520304.1:c.*208_*210del	XP_011518606.1:n.*208_*210del
NM_001318087.1:c.*208_*210del	NP_001305016.1:n.*208_*210del
NM_001318088.1:c.794_796del	NP_001305017.1:p.Phe265del
NM_001365135.1:c.1583_1585del	NP_001352064.1:p.Phe528del
NR_027400.2:n.1728_1730del
NR_134502.1:n.1267_1269del
XM_011520304.2:c.*208_*210del	XP_011518606.1:n.*208_*210del
XR_001747940.2:n.1900_1902del
XR_002957158.1:n.2082_2084del
NM_000543.5:c.1715_1717del MANE Select	NP_000534.3:p.Phe572del
NM_001007593.3:c.1712_1714del	NP_001007594.2:p.Phe571del
NM_001318087.2:c.*208_*210del	NP_001305016.1:n.*208_*210del
NM_001318088.2:c.794_796del	NP_001305017.1:p.Phe265del
NM_001365135.2:c.1583_1585del	NP_001352064.1:p.Phe528del
NR_027400.3:n.1668_1670del
NR_134502.2:n.1207_1209del