Canonical Allele Identifier: CA2679532075
Gene: PGM3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.83178734_83178736del , CM000668.2:g.83178734_83178736del GRCh38
NC_000006.11:g.83888453_83888455del , CM000668.1:g.83888453_83888455del GRCh37
NC_000006.10:g.83945172_83945174del NCBI36
NG_034146.1:g.20203_20205del
NG_034146.2:g.20167_20169del

Transcript Alleles

HGVS Amino-acid Change
ENST00000504780.6:c.788-2674_788-2672del ENSP00000421154.2:n.788-2674_788-2672del
ENST00000505470.6:c.*748_*750del ENSP00000423769.1:n.*748_*750del
ENST00000507554.2:c.968_970del ENSP00000425558.2:p.Gly323del
ENST00000508748.6:c.1052_1054del ENSP00000424865.2:p.Gly351del
ENST00000651204.2:c.787+3002_787+3004del ENSP00000498912.2:n.787+3002_787+3004del
ENST00000651698.2:c.788-2674_788-2672del ENSP00000498398.2:n.788-2674_788-2672del
ENST00000652222.2:c.968_970del ENSP00000499141.2:p.Gly323del
ENST00000698524.1:c.968_970del ENSP00000513773.1:p.Gly323del
ENST00000698525.1:c.205-4247_205-4245del ENSP00000513774.1:n.205-4247_205-4245del
ENST00000698526.1:c.968_970del ENSP00000513775.1:p.Gly323del
ENST00000698599.1:c.968_970del ENSP00000513827.1:p.Gly323del
ENST00000698600.1:c.788-2674_788-2672del ENSP00000513828.1:n.788-2674_788-2672del
ENST00000698601.1:c.*547_*549del ENSP00000513829.1:n.*547_*549del
ENST00000698602.1:c.968_970del ENSP00000513830.1:p.Gly323del
ENST00000698603.1:c.*748_*750del ENSP00000513831.1:n.*748_*750del
ENST00000698604.1:c.*568-2674_*568-2672del ENSP00000513832.1:n.*568-2674_*568-2672del
ENST00000698605.1:c.*748_*750del ENSP00000513833.1:n.*748_*750del
ENST00000698606.1:n.2879-2674_2879-2672del
ENST00000698607.1:c.788-2674_788-2672del ENSP00000513834.1:n.788-2674_788-2672del
ENST00000698608.1:c.725_727del ENSP00000513835.1:p.Gly242del
ENST00000698609.1:c.810_812del ENSP00000513836.1:p.Trp270del
ENST00000698610.1:c.725_727del ENSP00000513837.1:p.Gly242del
ENST00000698611.1:n.4605_4607del
ENST00000698612.1:c.592-2674_592-2672del ENSP00000513838.1:n.592-2674_592-2672del
ENST00000698613.1:c.968_970del ENSP00000513839.1:p.Gly323del
ENST00000698614.1:c.788-2674_788-2672del ENSP00000513840.1:n.788-2674_788-2672del
ENST00000698615.1:c.*567_*569del ENSP00000513841.1:n.*567_*569del
ENST00000698616.1:n.1057_1059del
ENST00000698617.1:n.1194_1196del
ENST00000698618.1:c.*748_*750del ENSP00000513842.1:n.*748_*750del
ENST00000698619.1:n.1057_1059del
ENST00000698620.1:c.788-2674_788-2672del ENSP00000513843.1:n.788-2674_788-2672del
ENST00000283977.9:c.725_727del ENSP00000283977.5:p.Gly242del
ENST00000509219.2:c.968_970del ENSP00000423389.2:p.Gly323del
ENST00000513973.6:c.968_970del MANE Select ENSP00000424874.1:p.Gly323del
ENST00000616566.5:c.725_727del ENSP00000477539.2:p.Gly242del
ENST00000650640.1:c.810_812del ENSP00000498423.1:p.Trp270del
ENST00000650642.1:c.968_970del ENSP00000498516.1:p.Gly323del
ENST00000651204.1:c.747+3002_747+3004del
ENST00000651425.1:c.725_727del ENSP00000498986.1:p.Gly242del
ENST00000651698.1:c.144-2674_144-2672del
ENST00000652222.1:c.722_724del ENSP00000499141.1:p.Gly241del
ENST00000652468.1:c.968_970del ENSP00000499112.1:p.Gly323del
ENST00000283977.8:c.725_727del ENSP00000283977.4:p.Gly242del
ENST00000506587.5:c.1052_1054del ENSP00000425809.1:p.Gly351del
ENST00000512866.5:c.968_970del ENSP00000421565.1:p.Gly323del
ENST00000513973.5:c.968_970del ENSP00000424874.1:p.Gly323del
ENST00000616566.4:c.725_727del ENSP00000477539.1:p.Gly242del
NM_001199917.1:c.1052_1054del NP_001186846.1:p.Gly351del
NM_001199918.1:c.725_727del NP_001186847.1:p.Gly242del
NM_001199919.1:c.968_970del NP_001186848.1:p.Gly323del
NM_015599.2:c.968_970del NP_056414.1:p.Gly323del
XM_011535901.1:c.1052_1054del XP_011534203.1:p.Gly351del
XM_011535902.1:c.1052_1054del XP_011534204.1:p.Gly351del
XM_011535903.1:c.1052_1054del XP_011534205.1:p.Gly351del
XR_942476.1:n.1209_1211del
XR_942477.1:n.1194_1196del
XR_942478.1:n.1058_1060del
XR_942479.1:n.1084_1086del
XR_942480.1:n.852_854del
XM_017010935.1:c.725_727del XP_016866424.1:p.Gly242del
XM_017010937.1:c.725_727del XP_016866426.1:p.Gly242del
XM_024446459.1:c.968_970del XP_024302227.1:p.Gly323del
XM_024446460.1:c.1052_1054del XP_024302228.1:p.Gly351del
XR_001743468.2:n.852_854del
XR_942478.3:n.1058_1060del
XR_942480.2:n.852_854del
NM_001199917.2:c.1052_1054del NP_001186846.1:p.Gly351del
NM_001367286.1:c.968_970del NP_001354215.1:p.Gly323del
NM_001367287.1:c.1052_1054del NP_001354216.1:p.Gly351del
NM_015599.3:c.968_970del MANE Select NP_056414.1:p.Gly323del
NR_159812.1:n.1057_1059del
NM_001199918.2:c.725_727del NP_001186847.1:p.Gly242del
NM_001199919.2:c.968_970del NP_001186848.1:p.Gly323del
NR_159812.2:n.1057_1059del