Canonical Allele Identifier: CA200326

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 193114
• ClinVar RCV Id: RCV000173157 ; RCV000970558 ; RCV001826871 ; RCV003907548
• dbSNP Id: rs794726889
• ExAC: 11:6411930 CCTGGTGCTGGCGCTGGCG / C
• gnomAD v2: 11-6411930-CCTGGTGCTGGCGCTGGCG-C
• gnomAD v3: 11-6390700-CCTGGTGCTGGCGCTGGCG-C
• gnomAD v4: 11-6390700-CCTGGTGCTGGCGCTGGCG-C
• MyVariant Identifiers: chr11:g.6411935_6411952del (hg19) ; chr11:g.6411931_6411948del (hg19) ; chr11:g.6411935_6411954delinsCG (hg19) ; chr11:g.6390705_6390722del (hg38) ; chr11:g.6390701_6390718del (hg38) ; chr11:g.6390705_6390724delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390705_6390722del , CM000673.2:g.6390705_6390722del	GRCh38
NC_000011.9:g.6411935_6411952del , CM000673.1:g.6411935_6411952del	GRCh37
NC_000011.8:g.6368511_6368528del	NCBI36
NG_011780.1:g.5281_5298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.107_124del MANE Select	ENSP00000340409.4:p.Val36_Leu41del
ENST00000342245.8:c.107_124del	ENSP00000340409.4:p.Val36_Leu41del
ENST00000527275.5:c.107_124del	ENSP00000435350.1:p.Val36_Leu41del
ENST00000530395.1:c.-96+66_-96+83del	ENSP00000431479.1:n.-96+66_-96+83del
ENST00000531303.5:c.107_124del	ENSP00000432625.1:p.Val36_Leu41del
ENST00000533123.5:c.107_124del	ENSP00000435950.1:p.Val36_Leu41del
ENST00000533196.1:n.266_283del
ENST00000534405.5:c.107_124del	ENSP00000434353.1:p.Val36_Leu41del
NM_000543.4:c.107_124del	NP_000534.3:p.Val36_Leu41del
NM_001007593.2:c.107_124del	NP_001007594.2:p.Val36_Leu41del
XM_005253075.3:c.107_124del	XP_005253132.1:p.Val36_Leu41del
XM_011520303.1:c.107_124del	XP_011518605.1:p.Val36_Leu41del
XM_011520304.1:c.107_124del	XP_011518606.1:p.Val36_Leu41del
XR_930886.1:n.405_422del
NM_001318087.1:c.107_124del	NP_001305016.1:p.Val36_Leu41del
NM_001318088.1:c.-855_-838del	NP_001305017.1:n.-855_-838del
NM_001365135.1:c.107_124del	NP_001352064.1:p.Val36_Leu41del
NR_027400.2:n.292_309del
NR_134502.1:n.292_309del
XM_011520304.2:c.107_124del	XP_011518606.1:p.Val36_Leu41del
XR_001747940.2:n.232_249del
XR_002957158.1:n.232_249del
NM_000543.5:c.107_124del MANE Select	NP_000534.3:p.Val36_Leu41del
NM_001007593.3:c.107_124del	NP_001007594.2:p.Val36_Leu41del
NM_001318087.2:c.107_124del	NP_001305016.1:p.Val36_Leu41del
NM_001318088.2:c.-855_-838del	NP_001305017.1:n.-855_-838del
NM_001365135.2:c.107_124del	NP_001352064.1:p.Val36_Leu41del
NR_027400.3:n.232_249del
NR_134502.2:n.232_249del