Canonical Allele Identifier: CA217298789

Gene: SMPD1

Linked Data

• dbSNP Id: rs150897792
• gnomAD v2: 11-6411535-GCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT-G
• gnomAD v3: 11-6390305-GCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT-G
• gnomAD v4: 11-6390305-GCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT-G
• MyVariant Identifiers: chr11:g.6411536_6411581del (hg19) ; chr11:g.6390306_6390351del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390312_6390357del , CM000673.2:g.6390312_6390357del	GRCh38
NC_000011.9:g.6411542_6411587del , CM000673.1:g.6411542_6411587del	GRCh37
NC_000011.8:g.6368118_6368163del	NCBI36
NG_011780.1:g.4888_4933del

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-287_-242del	XP_005253132.1:n.-287_-242del
XM_011520303.1:c.-287_-242del	XP_011518605.1:n.-287_-242del
XM_011520304.1:c.-287_-242del	XP_011518606.1:n.-287_-242del
XR_930886.1:n.12_57del