Canonical Allele Identifier: CA2612220643
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390318_6390319insTGGCTAGGGTCCAGGCC , CM000673.2:g.6390318_6390319insTGGCTAGGGTCCAGGCC GRCh38
NC_000011.9:g.6411548_6411549insTGGCTAGGGTCCAGGCC , CM000673.1:g.6411548_6411549insTGGCTAGGGTCCAGGCC GRCh37
NC_000011.8:g.6368124_6368125insTGGCTAGGGTCCAGGCC NCBI36
NG_011780.1:g.4894_4895insTGGCTAGGGTCCAGGCC

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-281_-280insTGGCTAGGGTCCAGGCC XP_005253132.1:n.-281_-280insTGGCTAGGGTCCAGGCC
XM_011520303.1:c.-281_-280insTGGCTAGGGTCCAGGCC XP_011518605.1:n.-281_-280insTGGCTAGGGTCCAGGCC
XM_011520304.1:c.-281_-280insTGGCTAGGGTCCAGGCC XP_011518606.1:n.-281_-280insTGGCTAGGGTCCAGGCC
XR_930886.1:n.18_19insTGGCTAGGGTCCAGGCC