Canonical Allele Identifier: CA2631641706

Gene: PMM2

Linked Data

• gnomAD v4: 16-8804991-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804993_8804994del , CM000678.2:g.8804993_8804994del	GRCh38
NC_000016.9:g.8898850_8898851del , CM000678.1:g.8898850_8898851del	GRCh37
NC_000016.8:g.8806351_8806352del	NCBI36
NG_009209.1:g.12181_12182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.255+150_255+151del	ENSP00000507849.1:n.255+150_255+151del
ENST00000682393.1:c.178+3083_178+3084del	ENSP00000506774.1:n.178+3083_178+3084del
ENST00000683094.1:c.179-1323_179-1322del	ENSP00000508230.1:n.179-1323_179-1322del
ENST00000683274.1:c.255+150_255+151del	ENSP00000507262.1:n.255+150_255+151del
ENST00000683435.1:c.*251+150_*251+151del	ENSP00000508092.1:n.*251+150_*251+151del
ENST00000268261.9:c.255+150_255+151del MANE Select	ENSP00000268261.4:n.255+150_255+151del
ENST00000268261.8:c.255+150_255+151del	ENSP00000268261.4:n.255+150_255+151del
ENST00000562318.5:c.179-1323_179-1322del	ENSP00000454395.1:n.179-1323_179-1322del
ENST00000562448.1:n.220-1323_220-1322del
ENST00000564030.5:n.317+150_317+151del
ENST00000564069.1:c.226+150_226+151del
ENST00000565221.5:c.178+3083_178+3084del	ENSP00000457932.1:n.178+3083_178+3084del
ENST00000565896.5:c.*145+2604_*145+2605del	ENSP00000456024.1:n.*145+2604_*145+2605del
ENST00000566540.5:c.179-1323_179-1322del	ENSP00000454284.1:n.179-1323_179-1322del
ENST00000566604.5:c.255+150_255+151del	ENSP00000456774.1:n.255+150_255+151del
ENST00000566983.5:c.174+150_174+151del	ENSP00000457956.1:n.174+150_174+151del
ENST00000568602.5:c.*108+150_*108+151del	ENSP00000455066.1:n.*108+150_*108+151del
ENST00000569958.5:c.178+3083_178+3084del	ENSP00000456302.1:n.178+3083_178+3084del
ENST00000570076.5:c.178+3083_178+3084del	ENSP00000456961.1:n.178+3083_178+3084del
ENST00000570134.5:c.179-1323_179-1322del	ENSP00000456275.1:n.179-1323_179-1322del
NM_000303.2:c.255+150_255+151del	NP_000294.1:n.255+150_255+151del
XM_005255372.3:c.255+150_255+151del	XP_005255429.1:n.255+150_255+151del
XM_005255373.3:c.7-1323_7-1322del	XP_005255430.1:n.7-1323_7-1322del
XM_005255374.3:c.7-1323_7-1322del	XP_005255431.1:n.7-1323_7-1322del
XM_011522538.1:c.255+150_255+151del	XP_011520840.1:n.255+150_255+151del
XM_011522539.1:c.-29+3083_-29+3084del	XP_011520841.1:n.-29+3083_-29+3084del
XM_005255374.4:c.7-1323_7-1322del	XP_005255431.1:n.7-1323_7-1322del
NM_000303.3:c.255+150_255+151del MANE Select	NP_000294.1:n.255+150_255+151del