Canonical Allele Identifier: CA2612221337

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6391622-C-CGCCCCCCCCAACCCCCCCCCCCCCCCCCCCCCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391629_6391630insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC , CM000673.2:g.6391629_6391630insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	GRCh38
NC_000011.9:g.6412859_6412860insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC , CM000673.1:g.6412859_6412860insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	GRCh37
NC_000011.8:g.6369435_6369436insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NCBI36
NG_011780.1:g.6205_6206insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC MANE Select	ENSP00000340409.4:p.Lys189ProfsTer?
ENST00000342245.8:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	ENSP00000340409.4:p.Lys189ProfsTer?
ENST00000527275.5:c.561_562insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	ENSP00000435350.1:p.Lys188ProfsTer?
ENST00000530395.1:c.-95-161_-95-160insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	ENSP00000431479.1:n.-95-161_-95-160insCCAACCCCCCCCCCCCCCCCCCC...
ENST00000531303.5:c.438+126_438+127insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	ENSP00000432625.1:n.438+126_438+127insCCAACCCCCCCCCCCCCCCCCCC...
ENST00000533123.5:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	ENSP00000435950.1:p.Lys189ProfsTer?
ENST00000533196.1:n.375-377_375-376insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC
ENST00000534405.5:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	ENSP00000434353.1:p.Lys189ProfsTer?
NM_000543.4:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_000534.3:p.Lys189ProfsTer?
NM_001007593.2:c.561_562insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001007594.2:p.Lys188ProfsTer?
XM_005253075.3:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	XP_005253132.1:p.Lys189ProfsTer?
XM_011520303.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	XP_011518605.1:p.Lys189ProfsTer?
XM_011520304.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	XP_011518606.1:p.Lys189ProfsTer?
XR_930886.1:n.862_863insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC
NM_001318087.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001305016.1:p.Lys189ProfsTer?
NM_001318088.1:c.-398_-397insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001305017.1:n.-398_-397insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCC...
NM_001365135.1:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001352064.1:p.Lys189ProfsTer?
NR_027400.2:n.749_750insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC
NR_134502.1:n.623+126_623+127insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC
XM_011520304.2:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	XP_011518606.1:p.Lys189ProfsTer?
XR_001747940.2:n.689_690insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC
XR_002957158.1:n.689_690insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC
NM_000543.5:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC MANE Select	NP_000534.3:p.Lys189ProfsTer?
NM_001007593.3:c.561_562insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001007594.2:p.Lys188ProfsTer?
NM_001318087.2:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001305016.1:p.Lys189ProfsTer?
NM_001318088.2:c.-398_-397insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001305017.1:n.-398_-397insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCC...
NM_001365135.2:c.564_565insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC	NP_001352064.1:p.Lys189ProfsTer?
NR_027400.3:n.689_690insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC
NR_134502.2:n.563+126_563+127insCCAACCCCCCCCCCCCCCCCCCCCCCCGGCCCCCC