Canonical Allele Identifier: CA1978918547
Gene: PYGM HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746980_64746982delinsCTT , CM000673.2:g.64746980_64746982delinsCTT GRCh38
NC_000011.9:g.64514452_64514454delinsCTT , CM000673.1:g.64514452_64514454delinsCTT GRCh37
NC_000011.8:g.64271028_64271030delinsCTT NCBI36
NG_007574.1:g.3475_3477delinsAAG , LRG_100:g.3475_3477delinsAAG
NG_013018.1:g.18734_18736delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2318_2320delinsAAG MANE Select ENSP00000164139.3:p.Lys773=
ENST00000164139.3:c.2318_2320delinsAAG ENSP00000164139.3:p.Lys773=
ENST00000377432.7:c.2054_2056delinsAAG ENSP00000366650.3:p.Lys685=
ENST00000483742.1:n.1671_1673delinsAAG
NM_001164716.1:c.2054_2056delinsAAG NP_001158188.1:p.Lys685=
NM_005609.2:c.2318_2320delinsAAG NP_005600.1:p.Lys773=
NM_005609.3:c.2318_2320delinsAAG NP_005600.1:p.Lys773=
NM_005609.4:c.2318_2320delinsAAG MANE Select NP_005600.1:p.Lys773=
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