Canonical Allele Identifier: CA4931022

Gene: SMPD5 OPLAH

Linked Data

• ClinVar Variation Id: 1661448
• ClinVar RCV Id: RCV002193081
• dbSNP Id: rs782715961
• ExAC: 8:145106390 GGGC / G
• gnomAD v2: 8-145106390-GGGC-G
• gnomAD v3: 8-144051489-GGGC-G
• gnomAD v4: 8-144051489-GGGC-G
• MyVariant Identifiers: chr8:g.145106391_145106393del (hg19) ; chr8:g.144051490_144051492del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144051492_144051494del , CM000670.2:g.144051492_144051494del	GRCh38
NC_000008.10:g.145106393_145106395del , CM000670.1:g.145106393_145106395del	GRCh37
NC_000008.9:g.145178381_145178383del	NCBI36
NG_032671.1:g.14190_14192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686861.1:n.715_717del (SMPD5)
ENST00000687871.1:n.963_965del (SMPD5)
ENST00000689734.1:n.963_965del (SMPD5)
ENST00000691496.1:n.800_802del (SMPD5)
ENST00000693651.1:n.964_966del (SMPD5)
ENST00000528912.1:n.1360_1362del (SMPD5)
ENST00000618853.5:c.3721-20_3721-18del (OPLAH) MANE Select	ENSP00000480476.1:n.3721-20_3721-18del
ENST00000618853.4:c.3721-20_3721-18del (OPLAH)	ENSP00000480476.1:n.3721-20_3721-18del
NM_017570.4:c.3721-20_3721-18del (OPLAH)	NP_060040.1:n.3721-20_3721-18del
XM_011516960.1:c.4009-20_4009-18del (OPLAH)	XP_011515262.1:n.4009-20_4009-18del
NM_017570.5:c.3721-20_3721-18del (OPLAH) MANE Select	NP_060040.1:n.3721-20_3721-18del