Canonical Allele Identifier: CA2517948608
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390384_6390386del , CM000673.2:g.6390384_6390386del GRCh38
NC_000011.9:g.6411614_6411616del , CM000673.1:g.6411614_6411616del GRCh37
NC_000011.8:g.6368190_6368192del NCBI36
NG_011780.1:g.4960_4962del

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-215_-213del XP_005253132.1:n.-215_-213del
XM_011520303.1:c.-215_-213del XP_011518605.1:n.-215_-213del
XM_011520304.1:c.-215_-213del XP_011518606.1:n.-215_-213del
XR_930886.1:n.84_86del