Canonical Allele Identifier: CA2631641946

Gene: PMM2

Linked Data

• gnomAD v4: 16-8806309-C-CATCTAGAATAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8806310_8806320dup , CM000678.2:g.8806310_8806320dup	GRCh38
NC_000016.9:g.8900167_8900177dup , CM000678.1:g.8900167_8900177dup	GRCh37
NC_000016.8:g.8807668_8807678dup	NCBI36
NG_009209.1:g.13498_13508dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.256-6_260dup
ENST00000682393.1:c.178+4400_178+4410dup	ENSP00000506774.1:n.178+4400_178+4410dup
ENST00000683094.1:c.179-6_183dup
ENST00000683274.1:c.256-6_260dup
ENST00000683435.1:c.*252-6_*256dup
ENST00000268261.9:c.256-6_260dup
ENST00000268261.8:c.256-6_260dup
ENST00000562318.5:c.179-6_183dup
ENST00000562448.1:n.220-6_224dup
ENST00000564030.5:n.318-6_322dup
ENST00000564069.1:c.227-6_231dup
ENST00000565221.5:c.178+4400_178+4410dup	ENSP00000457932.1:n.178+4400_178+4410dup
ENST00000565896.5:c.*145+3921_*145+3931dup	ENSP00000456024.1:n.*145+3921_*145+3931dup
ENST00000566540.5:c.179-6_183dup
ENST00000566604.5:c.256-6_260dup
ENST00000566983.5:c.175-6_179dup
ENST00000568602.5:c.*109-6_*113dup
ENST00000569958.5:c.178+4400_178+4410dup	ENSP00000456302.1:n.178+4400_178+4410dup
ENST00000570076.5:c.178+4400_178+4410dup	ENSP00000456961.1:n.178+4400_178+4410dup
ENST00000570134.5:c.179-6_183dup
NM_000303.2:c.256-6_260dup
XM_005255372.3:c.256-6_260dup
XM_005255373.3:c.7-6_11dup
XM_005255374.3:c.7-6_11dup
XM_011522538.1:c.256-6_260dup
XM_011522539.1:c.-29+4400_-29+4410dup	XP_011520841.1:n.-29+4400_-29+4410dup
XM_005255374.4:c.7-6_11dup
NM_000303.3:c.256-6_260dup