Canonical Allele Identifier: CA212797
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758249_64758352del , CM000673.2:g.64758249_64758352del GRCh38
NC_000011.9:g.64525721_64525824del , CM000673.1:g.64525721_64525824del GRCh37
NC_000011.8:g.64282297_64282400del NCBI36
NG_013018.1:g.7367_7470del

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.425_528del
ENST00000164139.3:c.425_528del
ENST00000377432.7:c.244-83_264del
NM_001164716.1:c.244-83_264del
NM_005609.2:c.425_528del
NM_005609.3:c.425_528del
NM_005609.4:c.425_528del
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