Canonical Allele Identifier: CA2631639066

Gene: PMM2

Linked Data

• gnomAD v4: 16-8797997-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797999del , CM000678.2:g.8797999del	GRCh38
NC_000016.9:g.8891856del , CM000678.1:g.8891856del	GRCh37
NC_000016.8:g.8799357del	NCBI36
NG_009209.1:g.5187del
NG_033146.1:g.4651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.66+51del	ENSP00000507849.1:n.66+51del
ENST00000682393.1:c.66+51del	ENSP00000506774.1:n.66+51del
ENST00000683094.1:c.66+51del	ENSP00000508230.1:n.66+51del
ENST00000683274.1:c.66+51del	ENSP00000507262.1:n.66+51del
ENST00000683435.1:c.66+51del	ENSP00000508092.1:n.66+51del
ENST00000268261.9:c.66+51del MANE Select	ENSP00000268261.4:n.66+51del
ENST00000268261.8:c.66+51del	ENSP00000268261.4:n.66+51del
ENST00000562318.5:c.66+51del	ENSP00000454395.1:n.66+51del
ENST00000562448.1:n.107+51del
ENST00000564030.5:n.128+51del
ENST00000564069.1:c.37+51del
ENST00000565221.5:c.66+51del	ENSP00000457932.1:n.66+51del
ENST00000565896.5:c.66+51del	ENSP00000456024.1:n.66+51del
ENST00000566196.5:n.110+51del
ENST00000566540.5:c.66+51del	ENSP00000454284.1:n.66+51del
ENST00000566604.5:c.66+51del	ENSP00000456774.1:n.66+51del
ENST00000566983.5:c.-15-3800del	ENSP00000457956.1:n.-15-3800del
ENST00000568602.5:c.66+51del	ENSP00000455066.1:n.66+51del
ENST00000569958.5:c.66+51del	ENSP00000456302.1:n.66+51del
ENST00000570076.5:c.66+51del	ENSP00000456961.1:n.66+51del
ENST00000570134.5:c.66+51del	ENSP00000456275.1:n.66+51del
NM_000303.2:c.66+51del	NP_000294.1:n.66+51del
XM_005255372.3:c.66+51del	XP_005255429.1:n.66+51del
XM_005255373.3:c.-107+51del	XP_005255430.1:n.-107+51del
XM_005255374.3:c.-107+51del	XP_005255431.1:n.-107+51del
XM_011522538.1:c.66+51del	XP_011520840.1:n.66+51del
XM_005255374.4:c.-107+51del	XP_005255431.1:n.-107+51del
NM_000303.3:c.66+51del MANE Select	NP_000294.1:n.66+51del