Canonical Allele Identifier: CA2612221999

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391632-ACCCCCTAGCCCCCCAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391636_6391652del , CM000673.2:g.6391636_6391652del	GRCh38
NC_000011.9:g.6412866_6412882del , CM000673.1:g.6412866_6412882del	GRCh37
NC_000011.8:g.6369442_6369458del	NCBI36
NG_011780.1:g.6212_6228del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.571_587del MANE Select	ENSP00000340409.4:p.Pro191ArgfsTer12
ENST00000342245.8:c.571_587del	ENSP00000340409.4:p.Pro191ArgfsTer12
ENST00000527275.5:c.568_584del	ENSP00000435350.1:p.Pro190ArgfsTer12
ENST00000530395.1:c.-95-154_-95-138del	ENSP00000431479.1:n.-95-154_-95-138del
ENST00000531303.5:c.438+133_438+149del	ENSP00000432625.1:n.438+133_438+149del
ENST00000533123.5:c.571_587del	ENSP00000435950.1:p.Pro191ArgfsTer12
ENST00000533196.1:n.375-370_375-354del
ENST00000534405.5:c.571_587del	ENSP00000434353.1:p.Pro191ArgfsTer12
NM_000543.4:c.571_587del	NP_000534.3:p.Pro191ArgfsTer12
NM_001007593.2:c.568_584del	NP_001007594.2:p.Pro190ArgfsTer12
XM_005253075.3:c.571_587del	XP_005253132.1:p.Pro191ArgfsTer12
XM_011520303.1:c.571_587del	XP_011518605.1:p.Pro191ArgfsTer12
XM_011520304.1:c.571_587del	XP_011518606.1:p.Pro191ArgfsTer12
XR_930886.1:n.869_885del
NM_001318087.1:c.571_587del	NP_001305016.1:p.Pro191ArgfsTer12
NM_001318088.1:c.-391_-375del	NP_001305017.1:n.-391_-375del
NM_001365135.1:c.571_587del	NP_001352064.1:p.Pro191ArgfsTer12
NR_027400.2:n.756_772del
NR_134502.1:n.623+133_623+149del
XM_011520304.2:c.571_587del	XP_011518606.1:p.Pro191ArgfsTer12
XR_001747940.2:n.696_712del
XR_002957158.1:n.696_712del
NM_000543.5:c.571_587del MANE Select	NP_000534.3:p.Pro191ArgfsTer12
NM_001007593.3:c.568_584del	NP_001007594.2:p.Pro190ArgfsTer12
NM_001318087.2:c.571_587del	NP_001305016.1:p.Pro191ArgfsTer12
NM_001318088.2:c.-391_-375del	NP_001305017.1:n.-391_-375del
NM_001365135.2:c.571_587del	NP_001352064.1:p.Pro191ArgfsTer12
NR_027400.3:n.696_712del
NR_134502.2:n.563+133_563+149del