Canonical Allele Identifier: CA2590997955

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6391629-CAA-C
• gnomAD v4: 11-6391629-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391631_6391632del , CM000673.2:g.6391631_6391632del	GRCh38
NC_000011.9:g.6412861_6412862del , CM000673.1:g.6412861_6412862del	GRCh37
NC_000011.8:g.6369437_6369438del	NCBI36
NG_011780.1:g.6207_6208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.566_567del MANE Select	ENSP00000340409.4:p.Lys189ThrfsTer3
ENST00000342245.8:c.566_567del	ENSP00000340409.4:p.Lys189ThrfsTer3
ENST00000527275.5:c.563_564del	ENSP00000435350.1:p.Lys188ThrfsTer3
ENST00000530395.1:c.-95-159_-95-158del	ENSP00000431479.1:n.-95-159_-95-158del
ENST00000531303.5:c.438+128_438+129del	ENSP00000432625.1:n.438+128_438+129del
ENST00000533123.5:c.566_567del	ENSP00000435950.1:p.Lys189ThrfsTer3
ENST00000533196.1:n.375-375_375-374del
ENST00000534405.5:c.566_567del	ENSP00000434353.1:p.Lys189ThrfsTer3
NM_000543.4:c.566_567del	NP_000534.3:p.Lys189ThrfsTer3
NM_001007593.2:c.563_564del	NP_001007594.2:p.Lys188ThrfsTer3
XM_005253075.3:c.566_567del	XP_005253132.1:p.Lys189ThrfsTer3
XM_011520303.1:c.566_567del	XP_011518605.1:p.Lys189ThrfsTer3
XM_011520304.1:c.566_567del	XP_011518606.1:p.Lys189ThrfsTer3
XR_930886.1:n.864_865del
NM_001318087.1:c.566_567del	NP_001305016.1:p.Lys189ThrfsTer3
NM_001318088.1:c.-396_-395del	NP_001305017.1:n.-396_-395del
NM_001365135.1:c.566_567del	NP_001352064.1:p.Lys189ThrfsTer3
NR_027400.2:n.751_752del
NR_134502.1:n.623+128_623+129del
XM_011520304.2:c.566_567del	XP_011518606.1:p.Lys189ThrfsTer3
XR_001747940.2:n.691_692del
XR_002957158.1:n.691_692del
NM_000543.5:c.566_567del MANE Select	NP_000534.3:p.Lys189ThrfsTer3
NM_001007593.3:c.563_564del	NP_001007594.2:p.Lys188ThrfsTer3
NM_001318087.2:c.566_567del	NP_001305016.1:p.Lys189ThrfsTer3
NM_001318088.2:c.-396_-395del	NP_001305017.1:n.-396_-395del
NM_001365135.2:c.566_567del	NP_001352064.1:p.Lys189ThrfsTer3
NR_027400.3:n.691_692del
NR_134502.2:n.563+128_563+129del