Canonical Allele Identifier: CA2612220833

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390427-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390430_6390431del , CM000673.2:g.6390430_6390431del	GRCh38
NC_000011.9:g.6411660_6411661del , CM000673.1:g.6411660_6411661del	GRCh37
NC_000011.8:g.6368236_6368237del	NCBI36
NG_011780.1:g.5006_5007del

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-169_-168del	NP_000534.3:n.-169_-168del
NM_001007593.2:c.-169_-168del	NP_001007594.2:n.-169_-168del
XM_005253075.3:c.-169_-168del	XP_005253132.1:n.-169_-168del
XM_011520303.1:c.-169_-168del	XP_011518605.1:n.-169_-168del
XM_011520304.1:c.-169_-168del	XP_011518606.1:n.-169_-168del
XR_930886.1:n.130_131del
NM_001318087.1:c.-169_-168del	NP_001305016.1:n.-169_-168del
NM_001318088.1:c.-1130_-1129del	NP_001305017.1:n.-1130_-1129del
NR_027400.2:n.17_18del
NR_134502.1:n.17_18del