Canonical Allele Identifier: CA2548247678
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64750503-G-GGC
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750503_64750504insGC , CM000673.2:g.64750503_64750504insGC GRCh38
NC_000011.9:g.64517975_64517976insGC , CM000673.1:g.64517975_64517976insGC GRCh37
NC_000011.8:g.64274551_64274552insGC NCBI36
NG_013018.1:g.15212_15213insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2049_2050insGC MANE Select ENSP00000164139.3:p.Leu684AlafsTer6
ENST00000164139.3:c.2049_2050insGC ENSP00000164139.3:p.Leu684AlafsTer6
ENST00000377432.7:c.1785_1786insGC ENSP00000366650.3:p.Leu596AlafsTer6
NM_001164716.1:c.1785_1786insGC NP_001158188.1:p.Leu596AlafsTer6
NM_005609.2:c.2049_2050insGC NP_005600.1:p.Leu684AlafsTer6
NM_005609.3:c.2049_2050insGC NP_005600.1:p.Leu684AlafsTer6
NM_005609.4:c.2049_2050insGC MANE Select NP_005600.1:p.Leu684AlafsTer6
Search 100 bp 5'
Search 100 bp 3'