Canonical Allele Identifier: CA2631641608

Gene: PMM2

Linked Data

• gnomAD v4: 16-8804928-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804931_8804933del , CM000678.2:g.8804931_8804933del	GRCh38
NC_000016.9:g.8898788_8898790del , CM000678.1:g.8898788_8898790del	GRCh37
NC_000016.8:g.8806289_8806291del	NCBI36
NG_009209.1:g.12119_12121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.255+88_255+90del	ENSP00000507849.1:n.255+88_255+90del
ENST00000682393.1:c.178+3021_178+3023del	ENSP00000506774.1:n.178+3021_178+3023del
ENST00000683094.1:c.179-1385_179-1383del	ENSP00000508230.1:n.179-1385_179-1383del
ENST00000683274.1:c.255+88_255+90del	ENSP00000507262.1:n.255+88_255+90del
ENST00000683435.1:c.*251+88_*251+90del	ENSP00000508092.1:n.*251+88_*251+90del
ENST00000268261.9:c.255+88_255+90del MANE Select	ENSP00000268261.4:n.255+88_255+90del
ENST00000268261.8:c.255+88_255+90del	ENSP00000268261.4:n.255+88_255+90del
ENST00000562318.5:c.179-1385_179-1383del	ENSP00000454395.1:n.179-1385_179-1383del
ENST00000562448.1:n.220-1385_220-1383del
ENST00000564030.5:n.317+88_317+90del
ENST00000564069.1:c.226+88_226+90del
ENST00000565221.5:c.178+3021_178+3023del	ENSP00000457932.1:n.178+3021_178+3023del
ENST00000565896.5:c.*145+2542_*145+2544del	ENSP00000456024.1:n.*145+2542_*145+2544del
ENST00000566540.5:c.179-1385_179-1383del	ENSP00000454284.1:n.179-1385_179-1383del
ENST00000566604.5:c.255+88_255+90del	ENSP00000456774.1:n.255+88_255+90del
ENST00000566983.5:c.174+88_174+90del	ENSP00000457956.1:n.174+88_174+90del
ENST00000568602.5:c.*108+88_*108+90del	ENSP00000455066.1:n.*108+88_*108+90del
ENST00000569958.5:c.178+3021_178+3023del	ENSP00000456302.1:n.178+3021_178+3023del
ENST00000570076.5:c.178+3021_178+3023del	ENSP00000456961.1:n.178+3021_178+3023del
ENST00000570134.5:c.179-1385_179-1383del	ENSP00000456275.1:n.179-1385_179-1383del
NM_000303.2:c.255+88_255+90del	NP_000294.1:n.255+88_255+90del
XM_005255372.3:c.255+88_255+90del	XP_005255429.1:n.255+88_255+90del
XM_005255373.3:c.7-1385_7-1383del	XP_005255430.1:n.7-1385_7-1383del
XM_005255374.3:c.7-1385_7-1383del	XP_005255431.1:n.7-1385_7-1383del
XM_011522538.1:c.255+88_255+90del	XP_011520840.1:n.255+88_255+90del
XM_011522539.1:c.-29+3021_-29+3023del	XP_011520841.1:n.-29+3021_-29+3023del
XM_005255374.4:c.7-1385_7-1383del	XP_005255431.1:n.7-1385_7-1383del
NM_000303.3:c.255+88_255+90del MANE Select	NP_000294.1:n.255+88_255+90del