Canonical Allele Identifier: CA2614192068
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64759889-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759891dup , CM000673.2:g.64759891dup GRCh38
NC_000011.9:g.64527363dup , CM000673.1:g.64527363dup GRCh37
NC_000011.8:g.64283939dup NCBI36
NG_013018.1:g.5826dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.9dup MANE Select ENSP00000164139.3:p.Pro4AlafsTer24
ENST00000164139.3:c.9dup ENSP00000164139.3:p.Pro4AlafsTer24
ENST00000377432.7:c.9dup ENSP00000366650.3:p.Pro4AlafsTer24
NM_001164716.1:c.9dup NP_001158188.1:p.Pro4AlafsTer24
NM_005609.2:c.9dup NP_005600.1:p.Pro4AlafsTer24
NM_005609.3:c.9dup NP_005600.1:p.Pro4AlafsTer24
NM_005609.4:c.9dup MANE Select NP_005600.1:p.Pro4AlafsTer24
Search 100 bp 5'
Search 100 bp 3'