Canonical Allele Identifier: CA1950149431
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394243_6394244delinsAC , CM000673.2:g.6394243_6394244delinsAC GRCh38
NC_000011.9:g.6415473_6415474delinsAC , CM000673.1:g.6415473_6415474delinsAC GRCh37
NC_000011.8:g.6372049_6372050delinsAC NCBI36
NG_011780.1:g.8819_8820delinsAC
NG_029615.1:g.30171_30172delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1532_1533delinsAC MANE Select ENSP00000340409.4:p.His511=
ENST00000342245.8:c.1532_1533delinsAC ENSP00000340409.4:p.His511=
ENST00000526280.1:c.589_590delinsAC
ENST00000527275.5:c.1529_1530delinsAC ENSP00000435350.1:p.His510=
ENST00000531303.5:c.*383_*384delinsAC ENSP00000432625.1:n.*383_*384delinsAC
ENST00000531336.1:n.520_521delinsAC
ENST00000533123.5:c.*259_*260delinsAC ENSP00000435950.1:n.*259_*260delinsAC
ENST00000534405.5:c.*363_*364delinsAC ENSP00000434353.1:n.*363_*364delinsAC
NM_000543.4:c.1532_1533delinsAC NP_000534.3:p.His511=
NM_001007593.2:c.1529_1530delinsAC NP_001007594.2:p.His510=
XM_005253075.3:c.*25_*26delinsAC XP_005253132.1:n.*25_*26delinsAC
XM_011520303.1:c.1400_1401delinsAC XP_011518605.1:p.His467=
XM_011520304.1:c.*25_*26delinsAC XP_011518606.1:n.*25_*26delinsAC
NM_001318087.1:c.*25_*26delinsAC NP_001305016.1:n.*25_*26delinsAC
NM_001318088.1:c.611_612delinsAC NP_001305017.1:p.His204=
NM_001365135.1:c.1400_1401delinsAC NP_001352064.1:p.His467=
NR_027400.2:n.1545_1546delinsAC
NR_134502.1:n.1084_1085delinsAC
XM_011520304.2:c.*25_*26delinsAC XP_011518606.1:n.*25_*26delinsAC
XR_001747940.2:n.1717_1718delinsAC
XR_002957158.1:n.1899_1900delinsAC
NM_000543.5:c.1532_1533delinsAC MANE Select NP_000534.3:p.His511=
NM_001007593.3:c.1529_1530delinsAC NP_001007594.2:p.His510=
NM_001318087.2:c.*25_*26delinsAC NP_001305016.1:n.*25_*26delinsAC
NM_001318088.2:c.611_612delinsAC NP_001305017.1:p.His204=
NM_001365135.2:c.1400_1401delinsAC NP_001352064.1:p.His467=
NR_027400.3:n.1485_1486delinsAC
NR_134502.2:n.1024_1025delinsAC