Canonical Allele Identifier: CA2612221021

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390734-GCGCTGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390736_6390743del , CM000673.2:g.6390736_6390743del	GRCh38
NC_000011.9:g.6411966_6411973del , CM000673.1:g.6411966_6411973del	GRCh37
NC_000011.8:g.6368542_6368549del	NCBI36
NG_011780.1:g.5312_5319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.138_145del MANE Select	ENSP00000340409.4:p.Leu47ValfsTer2
ENST00000342245.8:c.138_145del	ENSP00000340409.4:p.Leu47ValfsTer2
ENST00000527275.5:c.138_145del	ENSP00000435350.1:p.Leu47ValfsTer2
ENST00000530395.1:c.-96+97_-96+104del	ENSP00000431479.1:n.-96+97_-96+104del
ENST00000531303.5:c.138_145del	ENSP00000432625.1:p.Leu47ValfsTer2
ENST00000533123.5:c.138_145del	ENSP00000435950.1:p.Leu47ValfsTer2
ENST00000533196.1:n.297_304del
ENST00000534405.5:c.138_145del	ENSP00000434353.1:p.Leu47ValfsTer2
NM_000543.4:c.138_145del	NP_000534.3:p.Leu47ValfsTer2
NM_001007593.2:c.138_145del	NP_001007594.2:p.Leu47ValfsTer2
XM_005253075.3:c.138_145del	XP_005253132.1:p.Leu47ValfsTer2
XM_011520303.1:c.138_145del	XP_011518605.1:p.Leu47ValfsTer2
XM_011520304.1:c.138_145del	XP_011518606.1:p.Leu47ValfsTer2
XR_930886.1:n.436_443del
NM_001318087.1:c.138_145del	NP_001305016.1:p.Leu47ValfsTer2
NM_001318088.1:c.-824_-817del	NP_001305017.1:n.-824_-817del
NM_001365135.1:c.138_145del	NP_001352064.1:p.Leu47ValfsTer2
NR_027400.2:n.323_330del
NR_134502.1:n.323_330del
XM_011520304.2:c.138_145del	XP_011518606.1:p.Leu47ValfsTer2
XR_001747940.2:n.263_270del
XR_002957158.1:n.263_270del
NM_000543.5:c.138_145del MANE Select	NP_000534.3:p.Leu47ValfsTer2
NM_001007593.3:c.138_145del	NP_001007594.2:p.Leu47ValfsTer2
NM_001318087.2:c.138_145del	NP_001305016.1:p.Leu47ValfsTer2
NM_001318088.2:c.-824_-817del	NP_001305017.1:n.-824_-817del
NM_001365135.2:c.138_145del	NP_001352064.1:p.Leu47ValfsTer2
NR_027400.3:n.263_270del
NR_134502.2:n.263_270del