Canonical Allele Identifier: CA974446162

Gene: PMM2

Linked Data

• dbSNP Id: rs2060935978
• gnomAD v3: 16-8847653-TCC-T
• gnomAD v4: 16-8847653-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8847654_8847655del , CM000678.2:g.8847654_8847655del	GRCh38
NC_000016.9:g.8941511_8941512del , CM000678.1:g.8941511_8941512del	GRCh37
NC_000016.8:g.8849012_8849013del	NCBI36
NG_009209.1:g.54842_54843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567697.2:n.3808-70_3808-69del
ENST00000682393.1:c.*258-1715_*258-1714del	ENSP00000506774.1:n.*258-1715_*258-1714del
ENST00000683094.1:c.*262-1715_*262-1714del	ENSP00000508230.1:n.*262-1715_*262-1714del
ENST00000683274.1:c.*180-1715_*180-1714del	ENSP00000507262.1:n.*180-1715_*180-1714del
ENST00000683435.1:c.*536-70_*536-69del	ENSP00000508092.1:n.*536-70_*536-69del
ENST00000268261.9:c.640-70_640-69del MANE Select	ENSP00000268261.4:n.640-70_640-69del
ENST00000268261.8:c.640-70_640-69del	ENSP00000268261.4:n.640-70_640-69del
ENST00000562025.1:n.174-70_174-69del
ENST00000562318.5:c.*362-70_*362-69del	ENSP00000454395.1:n.*362-70_*362-69del
ENST00000565221.5:c.*258-70_*258-69del	ENSP00000457932.1:n.*258-70_*258-69del
ENST00000566540.5:c.*262-70_*262-69del	ENSP00000454284.1:n.*262-70_*262-69del
ENST00000566604.5:c.*180-70_*180-69del	ENSP00000456774.1:n.*180-70_*180-69del
ENST00000566983.5:c.559-70_559-69del	ENSP00000457956.1:n.559-70_559-69del
ENST00000567697.1:n.3808-70_3808-69del
ENST00000569958.5:c.367-70_367-69del	ENSP00000456302.1:n.367-70_367-69del
ENST00000570076.5:c.*98-70_*98-69del	ENSP00000456961.1:n.*98-70_*98-69del
NM_000303.2:c.640-70_640-69del	NP_000294.1:n.640-70_640-69del
XM_005255374.3:c.391-70_391-69del	XP_005255431.1:n.391-70_391-69del
XM_011522538.1:c.640-7380_640-7379del	XP_011520840.1:n.640-7380_640-7379del
XM_005255374.4:c.391-70_391-69del	XP_005255431.1:n.391-70_391-69del
NM_000303.3:c.640-70_640-69del MANE Select	NP_000294.1:n.640-70_640-69del