Canonical Allele Identifier: CA934779960

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6391633-CCCCCTAG-C
• gnomAD v4: 11-6391633-CCCCCTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391638_6391644del , CM000673.2:g.6391638_6391644del	GRCh38
NC_000011.9:g.6412868_6412874del , CM000673.1:g.6412868_6412874del	GRCh37
NC_000011.8:g.6369444_6369450del	NCBI36
NG_011780.1:g.6214_6220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.573_579del MANE Select	ENSP00000340409.4:p.Ser192GlnfsTer?
ENST00000342245.8:c.573_579del	ENSP00000340409.4:p.Ser192GlnfsTer?
ENST00000527275.5:c.570_576del	ENSP00000435350.1:p.Ser191GlnfsTer?
ENST00000530395.1:c.-95-152_-95-146del	ENSP00000431479.1:n.-95-152_-95-146del
ENST00000531303.5:c.438+135_438+141del	ENSP00000432625.1:n.438+135_438+141del
ENST00000533123.5:c.573_579del	ENSP00000435950.1:p.Ser192GlnfsTer?
ENST00000533196.1:n.375-368_375-362del
ENST00000534405.5:c.573_579del	ENSP00000434353.1:p.Ser192GlnfsTer?
NM_000543.4:c.573_579del	NP_000534.3:p.Ser192GlnfsTer?
NM_001007593.2:c.570_576del	NP_001007594.2:p.Ser191GlnfsTer?
XM_005253075.3:c.573_579del	XP_005253132.1:p.Ser192GlnfsTer?
XM_011520303.1:c.573_579del	XP_011518605.1:p.Ser192GlnfsTer?
XM_011520304.1:c.573_579del	XP_011518606.1:p.Ser192GlnfsTer?
XR_930886.1:n.871_877del
NM_001318087.1:c.573_579del	NP_001305016.1:p.Ser192GlnfsTer?
NM_001318088.1:c.-389_-383del	NP_001305017.1:n.-389_-383del
NM_001365135.1:c.573_579del	NP_001352064.1:p.Ser192GlnfsTer?
NR_027400.2:n.758_764del
NR_134502.1:n.623+135_623+141del
XM_011520304.2:c.573_579del	XP_011518606.1:p.Ser192GlnfsTer?
XR_001747940.2:n.698_704del
XR_002957158.1:n.698_704del
NM_000543.5:c.573_579del MANE Select	NP_000534.3:p.Ser192GlnfsTer?
NM_001007593.3:c.570_576del	NP_001007594.2:p.Ser191GlnfsTer?
NM_001318087.2:c.573_579del	NP_001305016.1:p.Ser192GlnfsTer?
NM_001318088.2:c.-389_-383del	NP_001305017.1:n.-389_-383del
NM_001365135.2:c.573_579del	NP_001352064.1:p.Ser192GlnfsTer?
NR_027400.3:n.698_704del
NR_134502.2:n.563+135_563+141del