Canonical Allele Identifier: CA934779952

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134010142
• gnomAD v3: 11-6391632-ACCCCCTAG-A
• gnomAD v4: 11-6391632-ACCCCCTAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391638_6391645del , CM000673.2:g.6391638_6391645del	GRCh38
NC_000011.9:g.6412868_6412875del , CM000673.1:g.6412868_6412875del	GRCh37
NC_000011.8:g.6369444_6369451del	NCBI36
NG_011780.1:g.6214_6221del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.573_580del MANE Select	ENSP00000340409.4:p.Pro194ArgfsTer12
ENST00000342245.8:c.573_580del	ENSP00000340409.4:p.Pro194ArgfsTer12
ENST00000527275.5:c.570_577del	ENSP00000435350.1:p.Pro193ArgfsTer12
ENST00000530395.1:c.-95-152_-95-145del	ENSP00000431479.1:n.-95-152_-95-145del
ENST00000531303.5:c.438+135_438+142del	ENSP00000432625.1:n.438+135_438+142del
ENST00000533123.5:c.573_580del	ENSP00000435950.1:p.Pro194ArgfsTer12
ENST00000533196.1:n.375-368_375-361del
ENST00000534405.5:c.573_580del	ENSP00000434353.1:p.Pro194ArgfsTer12
NM_000543.4:c.573_580del	NP_000534.3:p.Pro194ArgfsTer12
NM_001007593.2:c.570_577del	NP_001007594.2:p.Pro193ArgfsTer12
XM_005253075.3:c.573_580del	XP_005253132.1:p.Pro194ArgfsTer12
XM_011520303.1:c.573_580del	XP_011518605.1:p.Pro194ArgfsTer12
XM_011520304.1:c.573_580del	XP_011518606.1:p.Pro194ArgfsTer12
XR_930886.1:n.871_878del
NM_001318087.1:c.573_580del	NP_001305016.1:p.Pro194ArgfsTer12
NM_001318088.1:c.-389_-382del	NP_001305017.1:n.-389_-382del
NM_001365135.1:c.573_580del	NP_001352064.1:p.Pro194ArgfsTer12
NR_027400.2:n.758_765del
NR_134502.1:n.623+135_623+142del
XM_011520304.2:c.573_580del	XP_011518606.1:p.Pro194ArgfsTer12
XR_001747940.2:n.698_705del
XR_002957158.1:n.698_705del
NM_000543.5:c.573_580del MANE Select	NP_000534.3:p.Pro194ArgfsTer12
NM_001007593.3:c.570_577del	NP_001007594.2:p.Pro193ArgfsTer12
NM_001318087.2:c.573_580del	NP_001305016.1:p.Pro194ArgfsTer12
NM_001318088.2:c.-389_-382del	NP_001305017.1:n.-389_-382del
NM_001365135.2:c.573_580del	NP_001352064.1:p.Pro194ArgfsTer12
NR_027400.3:n.698_705del
NR_134502.2:n.563+135_563+142del