Canonical Allele Identifier: CA1950145701

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390707_6390714delinsCTGGCGCT , CM000673.2:g.6390707_6390714delinsCTGGCGCT	GRCh38
NC_000011.9:g.6411937_6411944delinsCTGGCGCT , CM000673.1:g.6411937_6411944delinsCTGGCGCT	GRCh37
NC_000011.8:g.6368513_6368520delinsCTGGCGCT	NCBI36
NG_011780.1:g.5283_5290delinsCTGGCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.109_116delinsCTGGCGCT MANE Select	ENSP00000340409.4:p.Leu37=
ENST00000342245.8:c.109_116delinsCTGGCGCT	ENSP00000340409.4:p.Leu37=
ENST00000527275.5:c.109_116delinsCTGGCGCT	ENSP00000435350.1:p.Leu37=
ENST00000530395.1:c.-96+68_-96+75delinsCTGGCGCT	ENSP00000431479.1:n.-96+68_-96+75delinsCTGGCGCT
ENST00000531303.5:c.109_116delinsCTGGCGCT	ENSP00000432625.1:p.Leu37=
ENST00000533123.5:c.109_116delinsCTGGCGCT	ENSP00000435950.1:p.Leu37=
ENST00000533196.1:n.268_275delinsCTGGCGCT
ENST00000534405.5:c.109_116delinsCTGGCGCT	ENSP00000434353.1:p.Leu37=
NM_000543.4:c.109_116delinsCTGGCGCT	NP_000534.3:p.Leu37=
NM_001007593.2:c.109_116delinsCTGGCGCT	NP_001007594.2:p.Leu37=
XM_005253075.3:c.109_116delinsCTGGCGCT	XP_005253132.1:p.Leu37=
XM_011520303.1:c.109_116delinsCTGGCGCT	XP_011518605.1:p.Leu37=
XM_011520304.1:c.109_116delinsCTGGCGCT	XP_011518606.1:p.Leu37=
XR_930886.1:n.407_414delinsCTGGCGCT
NM_001318087.1:c.109_116delinsCTGGCGCT	NP_001305016.1:p.Leu37=
NM_001318088.1:c.-853_-846delinsCTGGCGCT	NP_001305017.1:n.-853_-846delinsCTGGCGCT
NM_001365135.1:c.109_116delinsCTGGCGCT	NP_001352064.1:p.Leu37=
NR_027400.2:n.294_301delinsCTGGCGCT
NR_134502.1:n.294_301delinsCTGGCGCT
XM_011520304.2:c.109_116delinsCTGGCGCT	XP_011518606.1:p.Leu37=
XR_001747940.2:n.234_241delinsCTGGCGCT
XR_002957158.1:n.234_241delinsCTGGCGCT
NM_000543.5:c.109_116delinsCTGGCGCT MANE Select	NP_000534.3:p.Leu37=
NM_001007593.3:c.109_116delinsCTGGCGCT	NP_001007594.2:p.Leu37=
NM_001318087.2:c.109_116delinsCTGGCGCT	NP_001305016.1:p.Leu37=
NM_001318088.2:c.-853_-846delinsCTGGCGCT	NP_001305017.1:n.-853_-846delinsCTGGCGCT
NM_001365135.2:c.109_116delinsCTGGCGCT	NP_001352064.1:p.Leu37=
NR_027400.3:n.234_241delinsCTGGCGCT
NR_134502.2:n.234_241delinsCTGGCGCT