Canonical Allele Identifier: CA2631641157

Gene: PMM2

Linked Data

• gnomAD v4: 16-8804745-G-GCAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8804745_8804746insCAAAGA , CM000678.2:g.8804745_8804746insCAAAGA	GRCh38
NC_000016.9:g.8898602_8898603insCAAAGA , CM000678.1:g.8898602_8898603insCAAAGA	GRCh37
NC_000016.8:g.8806103_8806104insCAAAGA	NCBI36
NG_009209.1:g.11933_11934insCAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.179-22_179-21insCAAAGA	ENSP00000507849.1:n.179-22_179-21insCAAAGA
ENST00000682393.1:c.178+2835_178+2836insCAAAGA	ENSP00000506774.1:n.178+2835_178+2836insCAAAGA
ENST00000683094.1:c.179-1571_179-1570insCAAAGA	ENSP00000508230.1:n.179-1571_179-1570insCAAAGA
ENST00000683274.1:c.179-22_179-21insCAAAGA	ENSP00000507262.1:n.179-22_179-21insCAAAGA
ENST00000683435.1:c.*175-22_*175-21insCAAAGA	ENSP00000508092.1:n.*175-22_*175-21insCAAAGA
ENST00000268261.9:c.179-22_179-21insCAAAGA MANE Select	ENSP00000268261.4:n.179-22_179-21insCAAAGA
ENST00000268261.8:c.179-22_179-21insCAAAGA	ENSP00000268261.4:n.179-22_179-21insCAAAGA
ENST00000562318.5:c.179-1571_179-1570insCAAAGA	ENSP00000454395.1:n.179-1571_179-1570insCAAAGA
ENST00000562448.1:n.220-1571_220-1570insCAAAGA
ENST00000564030.5:n.241-22_241-21insCAAAGA
ENST00000564069.1:c.150-22_150-21insCAAAGA
ENST00000565221.5:c.178+2835_178+2836insCAAAGA	ENSP00000457932.1:n.178+2835_178+2836insCAAAGA
ENST00000565896.5:c.*145+2356_*145+2357insCAAAGA	ENSP00000456024.1:n.*145+2356_*145+2357insCAAAGA
ENST00000566540.5:c.179-1571_179-1570insCAAAGA	ENSP00000454284.1:n.179-1571_179-1570insCAAAGA
ENST00000566604.5:c.179-22_179-21insCAAAGA	ENSP00000456774.1:n.179-22_179-21insCAAAGA
ENST00000566983.5:c.98-22_98-21insCAAAGA	ENSP00000457956.1:n.98-22_98-21insCAAAGA
ENST00000568602.5:c.*32-22_*32-21insCAAAGA	ENSP00000455066.1:n.*32-22_*32-21insCAAAGA
ENST00000569958.5:c.178+2835_178+2836insCAAAGA	ENSP00000456302.1:n.178+2835_178+2836insCAAAGA
ENST00000570076.5:c.178+2835_178+2836insCAAAGA	ENSP00000456961.1:n.178+2835_178+2836insCAAAGA
ENST00000570134.5:c.179-1571_179-1570insCAAAGA	ENSP00000456275.1:n.179-1571_179-1570insCAAAGA
NM_000303.2:c.179-22_179-21insCAAAGA	NP_000294.1:n.179-22_179-21insCAAAGA
XM_005255372.3:c.179-22_179-21insCAAAGA	XP_005255429.1:n.179-22_179-21insCAAAGA
XM_005255373.3:c.7-1571_7-1570insCAAAGA	XP_005255430.1:n.7-1571_7-1570insCAAAGA
XM_005255374.3:c.7-1571_7-1570insCAAAGA	XP_005255431.1:n.7-1571_7-1570insCAAAGA
XM_011522538.1:c.179-22_179-21insCAAAGA	XP_011520840.1:n.179-22_179-21insCAAAGA
XM_011522539.1:c.-29+2835_-29+2836insCAAAGA	XP_011520841.1:n.-29+2835_-29+2836insCAAAGA
XM_005255374.4:c.7-1571_7-1570insCAAAGA	XP_005255431.1:n.7-1571_7-1570insCAAAGA
NM_000303.3:c.179-22_179-21insCAAAGA MANE Select	NP_000294.1:n.179-22_179-21insCAAAGA