Canonical Allele Identifier: CA1950150361

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394712_6394717delinsGTCCCT , CM000673.2:g.6394712_6394717delinsGTCCCT	GRCh38
NC_000011.9:g.6415942_6415947delinsGTCCCT , CM000673.1:g.6415942_6415947delinsGTCCCT	GRCh37
NC_000011.8:g.6372518_6372523delinsGTCCCT	NCBI36
NG_011780.1:g.9288_9293delinsGTCCCT
NG_029615.1:g.29698_29703delinsAGGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*105_*110delinsGTCCCT MANE Select	ENSP00000340409.4:n.*105_*110delinsGTCCCT
ENST00000342245.8:c.*105_*110delinsGTCCCT	ENSP00000340409.4:n.*105_*110delinsGTCCCT
ENST00000526280.1:c.1058_1063delinsGTCCCT
ENST00000527275.5:c.*105_*110delinsGTCCCT	ENSP00000435350.1:n.*105_*110delinsGTCCCT
ENST00000531303.5:c.*852_*857delinsGTCCCT	ENSP00000432625.1:n.*852_*857delinsGTCCCT
ENST00000533123.5:c.*728_*733delinsGTCCCT	ENSP00000435950.1:n.*728_*733delinsGTCCCT
ENST00000534405.5:c.*832_*837delinsGTCCCT	ENSP00000434353.1:n.*832_*837delinsGTCCCT
NM_000543.4:c.*105_*110delinsGTCCCT	NP_000534.3:n.*105_*110delinsGTCCCT
NM_001007593.2:c.*105_*110delinsGTCCCT	NP_001007594.2:n.*105_*110delinsGTCCCT
XM_011520303.1:c.*105_*110delinsGTCCCT	XP_011518605.1:n.*105_*110delinsGTCCCT
NM_001318087.1:c.*494_*499delinsGTCCCT	NP_001305016.1:n.*494_*499delinsGTCCCT
NM_001318088.1:c.*105_*110delinsGTCCCT	NP_001305017.1:n.*105_*110delinsGTCCCT
NM_001365135.1:c.*105_*110delinsGTCCCT	NP_001352064.1:n.*105_*110delinsGTCCCT
NR_027400.2:n.2014_2019delinsGTCCCT
NR_134502.1:n.1553_1558delinsGTCCCT
XR_001747940.2:n.2186_2191delinsGTCCCT
XR_002957158.1:n.2368_2373delinsGTCCCT
NM_000543.5:c.*105_*110delinsGTCCCT MANE Select	NP_000534.3:n.*105_*110delinsGTCCCT
NM_001007593.3:c.*105_*110delinsGTCCCT	NP_001007594.2:n.*105_*110delinsGTCCCT
NM_001318087.2:c.*494_*499delinsGTCCCT	NP_001305016.1:n.*494_*499delinsGTCCCT
NM_001318088.2:c.*105_*110delinsGTCCCT	NP_001305017.1:n.*105_*110delinsGTCCCT
NM_001365135.2:c.*105_*110delinsGTCCCT	NP_001352064.1:n.*105_*110delinsGTCCCT
NR_027400.3:n.1954_1959delinsGTCCCT
NR_134502.2:n.1493_1498delinsGTCCCT