Canonical Allele Identifier: CA2588340094
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390736_6390743delinsTG , CM000673.2:g.6390736_6390743delinsTG GRCh38
NC_000011.9:g.6411966_6411973delinsTG , CM000673.1:g.6411966_6411973delinsTG GRCh37
NC_000011.8:g.6368542_6368549delinsTG NCBI36
NG_011780.1:g.5312_5319delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.138_145delinsTG MANE Select ENSP00000340409.4:p.Leu47_Leu49delinsVal
ENST00000342245.8:c.138_145delinsTG ENSP00000340409.4:p.Leu47_Leu49delinsVal
ENST00000527275.5:c.138_145delinsTG ENSP00000435350.1:p.Leu47_Leu49delinsVal
ENST00000530395.1:c.-96+97_-96+104delinsTG ENSP00000431479.1:n.-96+97_-96+104delinsTG
ENST00000531303.5:c.138_145delinsTG ENSP00000432625.1:p.Leu47_Leu49delinsVal
ENST00000533123.5:c.138_145delinsTG ENSP00000435950.1:p.Leu47_Leu49delinsVal
ENST00000533196.1:n.297_304delinsTG
ENST00000534405.5:c.138_145delinsTG ENSP00000434353.1:p.Leu47_Leu49delinsVal
NM_000543.4:c.138_145delinsTG NP_000534.3:p.Leu47_Leu49delinsVal
NM_001007593.2:c.138_145delinsTG NP_001007594.2:p.Leu47_Leu49delinsVal
XM_005253075.3:c.138_145delinsTG XP_005253132.1:p.Leu47_Leu49delinsVal
XM_011520303.1:c.138_145delinsTG XP_011518605.1:p.Leu47_Leu49delinsVal
XM_011520304.1:c.138_145delinsTG XP_011518606.1:p.Leu47_Leu49delinsVal
XR_930886.1:n.436_443delinsTG
NM_001318087.1:c.138_145delinsTG NP_001305016.1:p.Leu47_Leu49delinsVal
NM_001318088.1:c.-824_-817delinsTG NP_001305017.1:n.-824_-817delinsTG
NM_001365135.1:c.138_145delinsTG NP_001352064.1:p.Leu47_Leu49delinsVal
NR_027400.2:n.323_330delinsTG
NR_134502.1:n.323_330delinsTG
XM_011520304.2:c.138_145delinsTG XP_011518606.1:p.Leu47_Leu49delinsVal
XR_001747940.2:n.263_270delinsTG
XR_002957158.1:n.263_270delinsTG
NM_000543.5:c.138_145delinsTG MANE Select NP_000534.3:p.Leu47_Leu49delinsVal
NM_001007593.3:c.138_145delinsTG NP_001007594.2:p.Leu47_Leu49delinsVal
NM_001318087.2:c.138_145delinsTG NP_001305016.1:p.Leu47_Leu49delinsVal
NM_001318088.2:c.-824_-817delinsTG NP_001305017.1:n.-824_-817delinsTG
NM_001365135.2:c.138_145delinsTG NP_001352064.1:p.Leu47_Leu49delinsVal
NR_027400.3:n.263_270delinsTG
NR_134502.2:n.263_270delinsTG