Canonical Allele Identifier: CA2631646120

Gene: PMM2

Linked Data

• gnomAD v4: 16-8847656-AGGGTCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847657_8847663del , CM000678.2:g.8847657_8847663del	GRCh38
NC_000016.9:g.8941514_8941520del , CM000678.1:g.8941514_8941520del	GRCh37
NC_000016.8:g.8849015_8849021del	NCBI36
NG_009209.1:g.54845_54851del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567697.2:n.3808-67_3808-61del
ENST00000682393.1:c.*258-1712_*258-1706del	ENSP00000506774.1:n.*258-1712_*258-1706de...
ENST00000683094.1:c.*262-1712_*262-1706del	ENSP00000508230.1:n.*262-1712_*262-1706de...
ENST00000683274.1:c.*180-1712_*180-1706del	ENSP00000507262.1:n.*180-1712_*180-1706de...
ENST00000683435.1:c.*536-67_*536-61del	ENSP00000508092.1:n.*536-67_*536-61del
ENST00000268261.9:c.640-67_640-61del MANE Select	ENSP00000268261.4:n.640-67_640-61del
ENST00000268261.8:c.640-67_640-61del	ENSP00000268261.4:n.640-67_640-61del
ENST00000562025.1:n.174-67_174-61del
ENST00000562318.5:c.*362-67_*362-61del	ENSP00000454395.1:n.*362-67_*362-61del
ENST00000565221.5:c.*258-67_*258-61del	ENSP00000457932.1:n.*258-67_*258-61del
ENST00000566540.5:c.*262-67_*262-61del	ENSP00000454284.1:n.*262-67_*262-61del
ENST00000566604.5:c.*180-67_*180-61del	ENSP00000456774.1:n.*180-67_*180-61del
ENST00000566983.5:c.559-67_559-61del	ENSP00000457956.1:n.559-67_559-61del
ENST00000567697.1:n.3808-67_3808-61del
ENST00000569958.5:c.367-67_367-61del	ENSP00000456302.1:n.367-67_367-61del
ENST00000570076.5:c.*98-67_*98-61del	ENSP00000456961.1:n.*98-67_*98-61del
NM_000303.2:c.640-67_640-61del	NP_000294.1:n.640-67_640-61del
XM_005255374.3:c.391-67_391-61del	XP_005255431.1:n.391-67_391-61del
XM_011522538.1:c.640-7377_640-7371del	XP_011520840.1:n.640-7377_640-7371del
XM_005255374.4:c.391-67_391-61del	XP_005255431.1:n.391-67_391-61del
NM_000303.3:c.640-67_640-61del MANE Select	NP_000294.1:n.640-67_640-61del