Canonical Allele Identifier: CA912972833
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514452_64514453del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746980_64746981del , CM000673.2:g.64746980_64746981del GRCh38
NC_000011.9:g.64514452_64514453del , CM000673.1:g.64514452_64514453del GRCh37
NC_000011.8:g.64271028_64271029del NCBI36
NG_007574.1:g.3476_3477del , LRG_100:g.3476_3477del
NG_013018.1:g.18735_18736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2319_2320del MANE Select ENSP00000164139.3:p.Lys773AsnfsTer6
ENST00000164139.3:c.2319_2320del ENSP00000164139.3:p.Lys773AsnfsTer6
ENST00000377432.7:c.2055_2056del ENSP00000366650.3:p.Lys685AsnfsTer6
ENST00000483742.1:n.1672_1673del
NM_001164716.1:c.2055_2056del NP_001158188.1:p.Lys685AsnfsTer6
NM_005609.2:c.2319_2320del NP_005600.1:p.Lys773AsnfsTer6
NM_005609.3:c.2319_2320del NP_005600.1:p.Lys773AsnfsTer6
NM_005609.4:c.2319_2320del MANE Select NP_005600.1:p.Lys773AsnfsTer6
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