Canonical Allele Identifier: CA2206158025
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8847694_8847699delinsAGCCTT , CM000678.2:g.8847694_8847699delinsAGCCTT GRCh38
NC_000016.9:g.8941551_8941556delinsAGCCTT , CM000678.1:g.8941551_8941556delinsAGCCTT GRCh37
NC_000016.8:g.8849052_8849057delinsAGCCTT NCBI36
NG_009209.1:g.54882_54887delinsAGCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000567697.2:n.3808-30_3808-25delinsAGCCTT
ENST00000682393.1:c.*258-1675_*258-1670delinsAGCCTT ENSP00000506774.1:n.*258-1675_*258-1670delinsAGCCTT
ENST00000683094.1:c.*262-1675_*262-1670delinsAGCCTT ENSP00000508230.1:n.*262-1675_*262-1670delinsAGCCTT
ENST00000683274.1:c.*180-1675_*180-1670delinsAGCCTT ENSP00000507262.1:n.*180-1675_*180-1670delinsAGCCTT
ENST00000683435.1:c.*536-30_*536-25delinsAGCCTT ENSP00000508092.1:n.*536-30_*536-25delinsAGCCTT
ENST00000268261.9:c.640-30_640-25delinsAGCCTT MANE Select ENSP00000268261.4:n.640-30_640-25delinsAGCCTT
ENST00000268261.8:c.640-30_640-25delinsAGCCTT ENSP00000268261.4:n.640-30_640-25delinsAGCCTT
ENST00000562025.1:n.174-30_174-25delinsAGCCTT
ENST00000562318.5:c.*362-30_*362-25delinsAGCCTT ENSP00000454395.1:n.*362-30_*362-25delinsAGCCTT
ENST00000565221.5:c.*258-30_*258-25delinsAGCCTT ENSP00000457932.1:n.*258-30_*258-25delinsAGCCTT
ENST00000566540.5:c.*262-30_*262-25delinsAGCCTT ENSP00000454284.1:n.*262-30_*262-25delinsAGCCTT
ENST00000566604.5:c.*180-30_*180-25delinsAGCCTT ENSP00000456774.1:n.*180-30_*180-25delinsAGCCTT
ENST00000566983.5:c.559-30_559-25delinsAGCCTT ENSP00000457956.1:n.559-30_559-25delinsAGCCTT
ENST00000567697.1:n.3808-30_3808-25delinsAGCCTT
ENST00000569958.5:c.367-30_367-25delinsAGCCTT ENSP00000456302.1:n.367-30_367-25delinsAGCCTT
ENST00000570076.5:c.*98-30_*98-25delinsAGCCTT ENSP00000456961.1:n.*98-30_*98-25delinsAGCCTT
NM_000303.2:c.640-30_640-25delinsAGCCTT NP_000294.1:n.640-30_640-25delinsAGCCTT
XM_005255374.3:c.391-30_391-25delinsAGCCTT XP_005255431.1:n.391-30_391-25delinsAGCCTT
XM_011522538.1:c.640-7340_640-7335delinsAGCCTT XP_011520840.1:n.640-7340_640-7335delinsAGCCTT
XM_005255374.4:c.391-30_391-25delinsAGCCTT XP_005255431.1:n.391-30_391-25delinsAGCCTT
NM_000303.3:c.640-30_640-25delinsAGCCTT MANE Select NP_000294.1:n.640-30_640-25delinsAGCCTT