Canonical Allele Identifier: CA2790302295
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391623_6391624insGGCCCCCCACCCCCCCCCCCCCCCCCC , CM000673.2:g.6391623_6391624insGGCCCCCCACCCCCCCCCCCCCCCCCC GRCh38
NC_000011.9:g.6412853_6412854insGGCCCCCCACCCCCCCCCCCCCCCCCC , CM000673.1:g.6412853_6412854insGGCCCCCCACCCCCCCCCCCCCCCCCC GRCh37
NC_000011.8:g.6369429_6369430insGGCCCCCCACCCCCCCCCCCCCCCCCC NCBI36
NG_011780.1:g.6199_6200insGGCCCCCCACCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC MANE Select ENSP00000340409.4:p.Pro186_Pro187insGlyProProProProProProProP...
ENST00000342245.8:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC ENSP00000340409.4:p.Pro186_Pro187insGlyProProProProProProProP...
ENST00000527275.5:c.555_556insGGCCCCCCACCCCCCCCCCCCCCCCCC ENSP00000435350.1:p.Pro185_Pro186insGlyProProProProProProProP...
ENST00000530395.1:c.-95-167_-95-166insGGCCCCCCACCCCCCCCCCCCCCCCCC ENSP00000431479.1:n.-95-167_-95-166insGGCCCCCCACCCCCCCCCCCCCC...
ENST00000531303.5:c.438+120_438+121insGGCCCCCCACCCCCCCCCCCCCCCCCC ENSP00000432625.1:n.438+120_438+121insGGCCCCCCACCCCCCCCCCCCCC...
ENST00000533123.5:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC ENSP00000435950.1:p.Pro186_Pro187insGlyProProProProProProProP...
ENST00000533196.1:n.375-383_375-382insGGCCCCCCACCCCCCCCCCCCCCCCCC
ENST00000534405.5:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC ENSP00000434353.1:p.Pro186_Pro187insGlyProProProProProProProP...
NM_000543.4:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_000534.3:p.Pro186_Pro187insGlyProProProProProProProPro
NM_001007593.2:c.555_556insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001007594.2:p.Pro185_Pro186insGlyProProProProProProProPro
XM_005253075.3:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC XP_005253132.1:p.Pro186_Pro187insGlyProProProProProProProPro
XM_011520303.1:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC XP_011518605.1:p.Pro186_Pro187insGlyProProProProProProProPro
XM_011520304.1:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC XP_011518606.1:p.Pro186_Pro187insGlyProProProProProProProPro
XR_930886.1:n.856_857insGGCCCCCCACCCCCCCCCCCCCCCCCC
NM_001318087.1:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001305016.1:p.Pro186_Pro187insGlyProProProProProProProPro
NM_001318088.1:c.-404_-403insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001305017.1:n.-404_-403insGGCCCCCCACCCCCCCCCCCCCCCCCC
NM_001365135.1:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001352064.1:p.Pro186_Pro187insGlyProProProProProProProPro
NR_027400.2:n.743_744insGGCCCCCCACCCCCCCCCCCCCCCCCC
NR_134502.1:n.623+120_623+121insGGCCCCCCACCCCCCCCCCCCCCCCCC
XM_011520304.2:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC XP_011518606.1:p.Pro186_Pro187insGlyProProProProProProProPro
XR_001747940.2:n.683_684insGGCCCCCCACCCCCCCCCCCCCCCCCC
XR_002957158.1:n.683_684insGGCCCCCCACCCCCCCCCCCCCCCCCC
NM_000543.5:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC MANE Select NP_000534.3:p.Pro186_Pro187insGlyProProProProProProProPro
NM_001007593.3:c.555_556insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001007594.2:p.Pro185_Pro186insGlyProProProProProProProPro
NM_001318087.2:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001305016.1:p.Pro186_Pro187insGlyProProProProProProProPro
NM_001318088.2:c.-404_-403insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001305017.1:n.-404_-403insGGCCCCCCACCCCCCCCCCCCCCCCCC
NM_001365135.2:c.558_559insGGCCCCCCACCCCCCCCCCCCCCCCCC NP_001352064.1:p.Pro186_Pro187insGlyProProProProProProProPro
NR_027400.3:n.683_684insGGCCCCCCACCCCCCCCCCCCCCCCCC
NR_134502.2:n.563+120_563+121insGGCCCCCCACCCCCCCCCCCCCCCCCC