Canonical Allele Identifier: CA6080409
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs770826945
ExAC: 11:64527409 GGGGACGGC / G
gnomAD v2: 11-64527409-GGGGACGGC-G
gnomAD v3: 11-64759937-GGGGACGGC-G
gnomAD v4: 11-64759937-GGGGACGGC-G
MyVariant Identifiers: chr11:g.64527410_64527417del (hg19) chr11:g.64759938_64759945del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759940_64759947del , CM000673.2:g.64759940_64759947del GRCh38
NC_000011.9:g.64527412_64527419del , CM000673.1:g.64527412_64527419del GRCh37
NC_000011.8:g.64283988_64283995del NCBI36
NG_013018.1:g.5771_5778del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.-47_-40del MANE Select ENSP00000164139.3:n.-47_-40del
ENST00000164139.3:c.-47_-40del ENSP00000164139.3:n.-47_-40del
ENST00000377432.7:c.-47_-40del ENSP00000366650.3:n.-47_-40del
NM_001164716.1:c.-47_-40del NP_001158188.1:n.-47_-40del
NM_005609.2:c.-47_-40del NP_005600.1:n.-47_-40del
NM_005609.3:c.-47_-40del NP_005600.1:n.-47_-40del
NM_005609.4:c.-47_-40del MANE Select NP_005600.1:n.-47_-40del
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