Canonical Allele Identifier: CA2612223315

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393755-T-TTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCTGTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393798_6393799insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT , CM000673.2:g.6393798_6393799insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	GRCh38
NC_000011.9:g.6415028_6415029insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT , CM000673.1:g.6415028_6415029insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	GRCh37
NC_000011.8:g.6371604_6371605insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NCBI36
NG_011780.1:g.8374_8375insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
NG_029615.1:g.30659_30660insGAACAGCCTCCCCACTCCATGGGACAACAGGGATGGTGAGATGCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT MANE Select	ENSP00000340409.4:n.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCT...
ENST00000342245.8:c.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	ENSP00000340409.4:n.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCT...
ENST00000526280.1:c.398-98_398-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
ENST00000527275.5:c.1338-98_1338-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	ENSP00000435350.1:n.1338-98_1338-97insGTTCTGAGCATCTCACCATCCCT...
ENST00000531303.5:c.*172-98_*172-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	ENSP00000432625.1:n.*172-98_*172-97insGTTCTGAGCATCTCACCATCCCT...
ENST00000531336.1:n.173-98_173-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
ENST00000532367.1:n.177-98_177-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
ENST00000533123.5:c.*68-98_*68-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	ENSP00000435950.1:n.*68-98_*68-97insGTTCTGAGCATCTCACCATCCCTGT...
ENST00000534405.5:c.*172-98_*172-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	ENSP00000434353.1:n.*172-98_*172-97insGTTCTGAGCATCTCACCATCCCT...
NM_000543.4:c.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_000534.3:n.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTC...
NM_001007593.2:c.1338-98_1338-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001007594.2:n.1338-98_1338-97insGTTCTGAGCATCTCACCATCCCTGTT...
XM_005253075.3:c.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	XP_005253132.1:n.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTT...
XM_011520303.1:c.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	XP_011518605.1:n.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTT...
XM_011520304.1:c.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	XP_011518606.1:n.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTT...
XR_930886.1:n.1679-98_1679-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
NM_001318087.1:c.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001305016.1:n.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTT...
NM_001318088.1:c.420-98_420-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001305017.1:n.420-98_420-97insGTTCTGAGCATCTCACCATCCCTGTTGT...
NM_001365135.1:c.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001352064.1:n.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTT...
NR_027400.2:n.1354-98_1354-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
NR_134502.1:n.873-98_873-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
XM_011520304.2:c.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	XP_011518606.1:n.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTT...
XR_001747940.2:n.1506-98_1506-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
XR_002957158.1:n.1610_1611insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
NM_000543.5:c.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT MANE Select	NP_000534.3:n.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTC...
NM_001007593.3:c.1338-98_1338-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001007594.2:n.1338-98_1338-97insGTTCTGAGCATCTCACCATCCCTGTT...
NM_001318087.2:c.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001305016.1:n.1341-98_1341-97insGTTCTGAGCATCTCACCATCCCTGTT...
NM_001318088.2:c.420-98_420-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001305017.1:n.420-98_420-97insGTTCTGAGCATCTCACCATCCCTGTTGT...
NM_001365135.2:c.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT	NP_001352064.1:n.1209-98_1209-97insGTTCTGAGCATCTCACCATCCCTGTT...
NR_027400.3:n.1294-98_1294-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT
NR_134502.2:n.813-98_813-97insGTTCTGAGCATCTCACCATCCCTGTTGTCCCATGGAGTGGGGAGGCT