Canonical Allele Identifier: CA2631646117

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847647-T-TGTGACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847647_8847648insGTGACCC , CM000678.2:g.8847647_8847648insGTGACCC	GRCh38
NC_000016.9:g.8941504_8941505insGTGACCC , CM000678.1:g.8941504_8941505insGTGACCC	GRCh37
NC_000016.8:g.8849005_8849006insGTGACCC	NCBI36
NG_009209.1:g.54835_54836insGTGACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-77_3808-76insGTGACCC
ENST00000682393.1:c.*258-1722_*258-1721insGTGACCC	ENSP00000506774.1:n.*258-1722_*258-1721insGTGACCC
ENST00000683094.1:c.*262-1722_*262-1721insGTGACCC	ENSP00000508230.1:n.*262-1722_*262-1721insGTGACCC
ENST00000683274.1:c.*180-1722_*180-1721insGTGACCC	ENSP00000507262.1:n.*180-1722_*180-1721insGTGACCC
ENST00000683435.1:c.*536-77_*536-76insGTGACCC	ENSP00000508092.1:n.*536-77_*536-76insGTGACCC
ENST00000268261.9:c.640-77_640-76insGTGACCC MANE Select	ENSP00000268261.4:n.640-77_640-76insGTGACCC
ENST00000268261.8:c.640-77_640-76insGTGACCC	ENSP00000268261.4:n.640-77_640-76insGTGACCC
ENST00000562025.1:n.174-77_174-76insGTGACCC
ENST00000562318.5:c.*362-77_*362-76insGTGACCC	ENSP00000454395.1:n.*362-77_*362-76insGTGACCC
ENST00000565221.5:c.*258-77_*258-76insGTGACCC	ENSP00000457932.1:n.*258-77_*258-76insGTGACCC
ENST00000566540.5:c.*262-77_*262-76insGTGACCC	ENSP00000454284.1:n.*262-77_*262-76insGTGACCC
ENST00000566604.5:c.*180-77_*180-76insGTGACCC	ENSP00000456774.1:n.*180-77_*180-76insGTGACCC
ENST00000566983.5:c.559-77_559-76insGTGACCC	ENSP00000457956.1:n.559-77_559-76insGTGACCC
ENST00000567697.1:n.3808-77_3808-76insGTGACCC
ENST00000569958.5:c.367-77_367-76insGTGACCC	ENSP00000456302.1:n.367-77_367-76insGTGACCC
ENST00000570076.5:c.*98-77_*98-76insGTGACCC	ENSP00000456961.1:n.*98-77_*98-76insGTGACCC
NM_000303.2:c.640-77_640-76insGTGACCC	NP_000294.1:n.640-77_640-76insGTGACCC
XM_005255374.3:c.391-77_391-76insGTGACCC	XP_005255431.1:n.391-77_391-76insGTGACCC
XM_011522538.1:c.640-7387_640-7386insGTGACCC	XP_011520840.1:n.640-7387_640-7386insGTGACCC
XM_005255374.4:c.391-77_391-76insGTGACCC	XP_005255431.1:n.391-77_391-76insGTGACCC
NM_000303.3:c.640-77_640-76insGTGACCC MANE Select	NP_000294.1:n.640-77_640-76insGTGACCC