Canonical Allele Identifier: CA2504016103
Gene: PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8805040_8805044del , CM000678.2:g.8805040_8805044del GRCh38
NC_000016.9:g.8898897_8898901del , CM000678.1:g.8898897_8898901del GRCh37
NC_000016.8:g.8806398_8806402del NCBI36
NG_009209.1:g.12228_12232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682008.1:c.255+197_255+201del ENSP00000507849.1:n.255+197_255+201del
ENST00000682393.1:c.178+3130_178+3134del ENSP00000506774.1:n.178+3130_178+3134del
ENST00000683094.1:c.179-1276_179-1272del ENSP00000508230.1:n.179-1276_179-1272del
ENST00000683274.1:c.255+197_255+201del ENSP00000507262.1:n.255+197_255+201del
ENST00000683435.1:c.*251+197_*251+201del ENSP00000508092.1:n.*251+197_*251+201del
ENST00000268261.9:c.255+197_255+201del MANE Select ENSP00000268261.4:n.255+197_255+201del
ENST00000268261.8:c.255+197_255+201del ENSP00000268261.4:n.255+197_255+201del
ENST00000562318.5:c.179-1276_179-1272del ENSP00000454395.1:n.179-1276_179-1272del
ENST00000562448.1:n.220-1276_220-1272del
ENST00000564030.5:n.317+197_317+201del
ENST00000564069.1:c.226+197_226+201del
ENST00000565221.5:c.178+3130_178+3134del ENSP00000457932.1:n.178+3130_178+3134del
ENST00000565896.5:c.*145+2651_*145+2655del ENSP00000456024.1:n.*145+2651_*145+2655del
ENST00000566540.5:c.179-1276_179-1272del ENSP00000454284.1:n.179-1276_179-1272del
ENST00000566604.5:c.255+197_255+201del ENSP00000456774.1:n.255+197_255+201del
ENST00000566983.5:c.174+197_174+201del ENSP00000457956.1:n.174+197_174+201del
ENST00000568602.5:c.*108+197_*108+201del ENSP00000455066.1:n.*108+197_*108+201del
ENST00000569958.5:c.178+3130_178+3134del ENSP00000456302.1:n.178+3130_178+3134del
ENST00000570076.5:c.178+3130_178+3134del ENSP00000456961.1:n.178+3130_178+3134del
ENST00000570134.5:c.179-1276_179-1272del ENSP00000456275.1:n.179-1276_179-1272del
NM_000303.2:c.255+197_255+201del NP_000294.1:n.255+197_255+201del
XM_005255372.3:c.255+197_255+201del XP_005255429.1:n.255+197_255+201del
XM_005255373.3:c.7-1276_7-1272del XP_005255430.1:n.7-1276_7-1272del
XM_005255374.3:c.7-1276_7-1272del XP_005255431.1:n.7-1276_7-1272del
XM_011522538.1:c.255+197_255+201del XP_011520840.1:n.255+197_255+201del
XM_011522539.1:c.-29+3130_-29+3134del XP_011520841.1:n.-29+3130_-29+3134del
XM_005255374.4:c.7-1276_7-1272del XP_005255431.1:n.7-1276_7-1272del
NM_000303.3:c.255+197_255+201del MANE Select NP_000294.1:n.255+197_255+201del