Canonical Allele Identifier: CA2631641644

Gene: PMM2

Linked Data

• gnomAD v4: 16-8804939-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804939_8804940insG , CM000678.2:g.8804939_8804940insG	GRCh38
NC_000016.9:g.8898796_8898797insG , CM000678.1:g.8898796_8898797insG	GRCh37
NC_000016.8:g.8806297_8806298insG	NCBI36
NG_009209.1:g.12127_12128insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.255+96_255+97insG	ENSP00000507849.1:n.255+96_255+97insG
ENST00000682393.1:c.178+3029_178+3030insG	ENSP00000506774.1:n.178+3029_178+3030insG
ENST00000683094.1:c.179-1377_179-1376insG	ENSP00000508230.1:n.179-1377_179-1376insG
ENST00000683274.1:c.255+96_255+97insG	ENSP00000507262.1:n.255+96_255+97insG
ENST00000683435.1:c.*251+96_*251+97insG	ENSP00000508092.1:n.*251+96_*251+97insG
ENST00000268261.9:c.255+96_255+97insG MANE Select	ENSP00000268261.4:n.255+96_255+97insG
ENST00000268261.8:c.255+96_255+97insG	ENSP00000268261.4:n.255+96_255+97insG
ENST00000562318.5:c.179-1377_179-1376insG	ENSP00000454395.1:n.179-1377_179-1376insG
ENST00000562448.1:n.220-1377_220-1376insG
ENST00000564030.5:n.317+96_317+97insG
ENST00000564069.1:c.226+96_226+97insG
ENST00000565221.5:c.178+3029_178+3030insG	ENSP00000457932.1:n.178+3029_178+3030insG
ENST00000565896.5:c.*145+2550_*145+2551insG	ENSP00000456024.1:n.*145+2550_*145+2551insG
ENST00000566540.5:c.179-1377_179-1376insG	ENSP00000454284.1:n.179-1377_179-1376insG
ENST00000566604.5:c.255+96_255+97insG	ENSP00000456774.1:n.255+96_255+97insG
ENST00000566983.5:c.174+96_174+97insG	ENSP00000457956.1:n.174+96_174+97insG
ENST00000568602.5:c.*108+96_*108+97insG	ENSP00000455066.1:n.*108+96_*108+97insG
ENST00000569958.5:c.178+3029_178+3030insG	ENSP00000456302.1:n.178+3029_178+3030insG
ENST00000570076.5:c.178+3029_178+3030insG	ENSP00000456961.1:n.178+3029_178+3030insG
ENST00000570134.5:c.179-1377_179-1376insG	ENSP00000456275.1:n.179-1377_179-1376insG
NM_000303.2:c.255+96_255+97insG	NP_000294.1:n.255+96_255+97insG
XM_005255372.3:c.255+96_255+97insG	XP_005255429.1:n.255+96_255+97insG
XM_005255373.3:c.7-1377_7-1376insG	XP_005255430.1:n.7-1377_7-1376insG
XM_005255374.3:c.7-1377_7-1376insG	XP_005255431.1:n.7-1377_7-1376insG
XM_011522538.1:c.255+96_255+97insG	XP_011520840.1:n.255+96_255+97insG
XM_011522539.1:c.-29+3029_-29+3030insG	XP_011520841.1:n.-29+3029_-29+3030insG
XM_005255374.4:c.7-1377_7-1376insG	XP_005255431.1:n.7-1377_7-1376insG
NM_000303.3:c.255+96_255+97insG MANE Select	NP_000294.1:n.255+96_255+97insG