Canonical Allele Identifier: CA2590997913
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs2134003553
gnomAD v3: 11-6390381-GCAGCGTTGACAGCCGCCCGCCACCGAGAGAT-G
gnomAD v4: 11-6390381-GCAGCGTTGACAGCCGCCCGCCACCGAGAGAT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390386_6390416del , CM000673.2:g.6390386_6390416del GRCh38
NC_000011.9:g.6411616_6411646del , CM000673.1:g.6411616_6411646del GRCh37
NC_000011.8:g.6368192_6368222del NCBI36
NG_011780.1:g.4962_4992del

Transcript Alleles

HGVS Amino-acid Change
XM_005253075.3:c.-213_-183del XP_005253132.1:n.-213_-183del
XM_011520303.1:c.-213_-183del XP_011518605.1:n.-213_-183del
XM_011520304.1:c.-213_-183del XP_011518606.1:n.-213_-183del
XR_930886.1:n.86_116del
Search 100 bp 5'
Search 100 bp 3'