Canonical Allele Identifier: CA10575617
Gene: GMPPA HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219501547del , CM000664.2:g.219501547del GRCh38
NC_000002.11:g.220366269del , CM000664.1:g.220366269del GRCh37
NC_000002.10:g.220074513del NCBI36
NG_033833.1:g.7683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000341142.8:c.210del (GMPPA) ENSP00000340760.3:p.Ala71ProfsTer19
ENST00000435316.6:c.105del (GMPPA) ENSP00000411060.1:p.Ala36ProfsTer19
ENST00000455657.6:c.210del (GMPPA) ENSP00000392465.3:p.Ala71ProfsTer19
ENST00000480506.6:n.260del (GMPPA)
ENST00000496536.2:n.214del (GMPPA)
ENST00000622191.2:c.210del (GMPPA) ENSP00000478700.2:p.Ala71ProfsTer19
ENST00000635609.2:n.313del (GMPPA)
ENST00000682058.1:c.210del (GMPPA) ENSP00000507378.1:p.Ala71ProfsTer19
ENST00000682102.1:c.210del (GMPPA) ENSP00000508279.1:p.Ala71ProfsTer19
ENST00000682340.1:n.304del (GMPPA)
ENST00000682435.1:n.139del (GMPPA)
ENST00000682443.1:n.570del (GMPPA)
ENST00000682481.1:c.210del (GMPPA) ENSP00000507331.1:p.Ala71ProfsTer25
ENST00000682488.1:c.69+1398del (GMPPA) ENSP00000507140.1:n.69+1398del
ENST00000682576.1:c.210del (GMPPA) ENSP00000508370.1:p.Ala71ProfsTer19
ENST00000683106.1:n.304del (GMPPA)
ENST00000683131.1:c.210del (GMPPA) ENSP00000507530.1:p.Ala71ProfsTer25
ENST00000683241.1:n.304del (GMPPA)
ENST00000683382.1:n.299del (GMPPA)
ENST00000683386.1:c.210del (GMPPA) ENSP00000507844.1:p.Ala71ProfsTer25
ENST00000683402.1:c.210del (GMPPA) ENSP00000507137.1:p.Ala71ProfsTer19
ENST00000683591.1:c.210del (GMPPA) ENSP00000508406.1:p.Ala71ProfsTer19
ENST00000683598.1:c.210del (GMPPA) ENSP00000508168.1:p.Ala71ProfsTer19
ENST00000683617.1:n.297del (GMPPA)
ENST00000683626.1:c.210del (GMPPA) ENSP00000507216.1:p.Ala71ProfsTer25
ENST00000683691.1:c.*101del (GMPPA) ENSP00000508392.1:n.*101del
ENST00000683746.1:n.146del (GMPPA)
ENST00000683752.1:c.138+1329del (GMPPA) ENSP00000507197.1:n.138+1329del
ENST00000683864.1:c.210del (GMPPA) ENSP00000507147.1:p.Ala71ProfsTer28
ENST00000683946.1:c.210del (GMPPA) ENSP00000506941.1:p.Ala71ProfsTer19
ENST00000684227.1:c.210del (GMPPA) ENSP00000507190.1:p.Ala71ProfsTer19
ENST00000684242.1:n.295del (GMPPA)
ENST00000684274.1:n.304del (GMPPA)
ENST00000684334.1:n.281del (GMPPA)
ENST00000684412.1:n.285del (GMPPA)
ENST00000684562.1:n.304del (GMPPA)
ENST00000684669.1:c.105del (GMPPA) ENSP00000507011.1:p.Ala36ProfsTer19
ENST00000684706.1:n.274del (GMPPA)
ENST00000684729.1:c.210del (GMPPA) ENSP00000507441.1:p.Ala71ProfsTer19
ENST00000313597.10:c.210del (GMPPA) MANE Select ENSP00000315925.6:p.Ala71ProfsTer19
ENST00000313597.9:c.210del (GMPPA) ENSP00000315925.5:p.Ala71ProfsTer19
ENST00000341142.7:c.210del (GMPPA) ENSP00000340760.3:p.Ala71ProfsTer19
ENST00000358215.8:c.210del (GMPPA) ENSP00000350949.3:p.Ala71ProfsTer19
ENST00000373908.5:c.210del (GMPPA) ENSP00000363016.1:p.Ala71ProfsTer19
ENST00000373917.7:c.210del (GMPPA) ENSP00000363027.3:p.Ala71ProfsTer19
ENST00000435316.5:c.105del (GMPPA) ENSP00000411060.1:p.Ala36ProfsTer19
ENST00000443704.5:c.210del (GMPPA) ENSP00000396750.1:p.Ala71ProfsTer19
ENST00000455657.5:c.210del (GMPPA) ENSP00000392465.2:p.Ala71ProfsTer19
ENST00000480506.5:n.285del (GMPPA)
ENST00000481170.1:n.1668del (GMPPA)
ENST00000622191.1:c.210del (GMPPA) ENSP00000478700.1:p.Ala71ProfsTer19
ENST00000635609.1:n.263del (GMPPA)
NM_013335.3:c.210del (GMPPA) NP_037467.2:p.Ala71ProfsTer19
NM_205847.2:c.210del (GMPPA) NP_995319.1:p.Ala71ProfsTer19
XM_005246483.2:c.210del (GMPPA) XP_005246540.1:p.Ala71ProfsTer19
XM_005246485.2:c.210del (GMPPA) XP_005246542.1:p.Ala71ProfsTer19
XM_005246486.2:c.210del (GMPPA) XP_005246543.1:p.Ala71ProfsTer19
XM_011511032.1:c.210del (GMPPA) XP_011509334.1:p.Ala71ProfsTer19
XM_011511033.1:c.-105del (GMPPA) XP_011509335.1:n.-105del
XM_011511034.1:c.210del (GMPPA) XP_011509336.1:p.Ala71ProfsTer19
XM_011511035.1:c.210del (GMPPA) XP_011509337.1:p.Ala71ProfsTer19
XR_241307.2:n.304del (GMPPA)
XR_923921.1:n.352+15150del (ASIC4-AS1)
XM_005246486.3:c.210del (GMPPA) XP_005246543.1:p.Ala71ProfsTer19
XM_024452823.1:c.210del (GMPPA) XP_024308591.1:p.Ala71ProfsTer19
XR_923921.2:n.391+15150del (ASIC4-AS1)
NM_001374294.1:c.210del (GMPPA) NP_001361223.1:p.Ala71ProfsTer19
NM_001374295.1:c.210del (GMPPA) NP_001361224.1:p.Ala71ProfsTer19
NM_013335.4:c.210del (GMPPA) MANE Select NP_037467.2:p.Ala71ProfsTer19
NM_205847.3:c.210del (GMPPA) NP_995319.1:p.Ala71ProfsTer19