Canonical Allele Identifier: CA1950145413
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390305_6390351delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT , CM000673.2:g.6390305_6390351delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT GRCh38
NC_000011.9:g.6411535_6411581delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT , CM000673.1:g.6411535_6411581delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT GRCh37
NC_000011.8:g.6368111_6368157delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT NCBI36
NG_011780.1:g.4881_4927delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-294_-248delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT XP_005253132.1:n.-294_-248delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGG...
XM_011520303.1:c.-294_-248delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT XP_011518605.1:n.-294_-248delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGG...
XM_011520304.1:c.-294_-248delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT XP_011518606.1:n.-294_-248delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGG...
XR_930886.1:n.5_51delinsGCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT