Canonical Allele Identifier: CA620726960

Gene: PMM2

Linked Data

• ClinVar Variation Id: 2041195
• ClinVar RCV Id: RCV002890998
• dbSNP Id: rs1278487078
• gnomAD v2: 16-8891752-GGCCCAGCGCTCT-G
• gnomAD v3: 16-8797895-GGCCCAGCGCTCT-G
• gnomAD v4: 16-8797895-GGCCCAGCGCTCT-G
• MyVariant Identifiers: chr16:g.8891753_8891764del (hg19) ; chr16:g.8797896_8797907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797899_8797910del , CM000678.2:g.8797899_8797910del	GRCh38
NC_000016.9:g.8891756_8891767del , CM000678.1:g.8891756_8891767del	GRCh37
NC_000016.8:g.8799257_8799268del	NCBI36
NG_009209.1:g.5087_5098del
NG_033146.1:g.4742_4753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682008.1:c.17_28del	ENSP00000507849.1:p.Pro6_Cys9del
ENST00000682393.1:c.17_28del	ENSP00000506774.1:p.Pro6_Cys9del
ENST00000683094.1:c.17_28del	ENSP00000508230.1:p.Pro6_Cys9del
ENST00000683274.1:c.17_28del	ENSP00000507262.1:p.Pro6_Cys9del
ENST00000683435.1:c.17_28del	ENSP00000508092.1:p.Pro6_Cys9del
ENST00000268261.9:c.17_28del MANE Select	ENSP00000268261.4:p.Pro6_Cys9del
ENST00000268261.8:c.17_28del	ENSP00000268261.4:p.Pro6_Cys9del
ENST00000562318.5:c.17_28del	ENSP00000454395.1:p.Pro6_Cys9del
ENST00000562448.1:n.58_69del
ENST00000564030.5:n.79_90del
ENST00000565221.5:c.17_28del	ENSP00000457932.1:p.Pro6_Cys9del
ENST00000565896.5:c.17_28del	ENSP00000456024.1:p.Pro6_Cys9del
ENST00000566196.5:n.61_72del
ENST00000566540.5:c.17_28del	ENSP00000454284.1:p.Pro6_Cys9del
ENST00000566604.5:c.17_28del	ENSP00000456774.1:p.Pro6_Cys9del
ENST00000566983.5:c.-15-3900_-15-3889del	ENSP00000457956.1:n.-15-3900_-15-3889del
ENST00000568602.5:c.17_28del	ENSP00000455066.1:p.Pro6_Cys9del
ENST00000569958.5:c.17_28del	ENSP00000456302.1:p.Pro6_Cys9del
ENST00000570076.5:c.17_28del	ENSP00000456961.1:p.Pro6_Cys9del
ENST00000570134.5:c.17_28del	ENSP00000456275.1:p.Pro6_Cys9del
NM_000303.2:c.17_28del	NP_000294.1:p.Pro6_Cys9del
XM_005255372.3:c.17_28del	XP_005255429.1:p.Pro6_Cys9del
XM_005255373.3:c.-156_-145del	XP_005255430.1:n.-156_-145del
XM_005255374.3:c.-156_-145del	XP_005255431.1:n.-156_-145del
XM_011522538.1:c.17_28del	XP_011520840.1:p.Pro6_Cys9del
XM_005255374.4:c.-156_-145del	XP_005255431.1:n.-156_-145del
NM_000303.3:c.17_28del MANE Select	NP_000294.1:p.Pro6_Cys9del