Canonical Allele Identifier: CA2614191695
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64759664-CCTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759667_64759669del , CM000673.2:g.64759667_64759669del GRCh38
NC_000011.9:g.64527139_64527141del , CM000673.1:g.64527139_64527141del GRCh37
NC_000011.8:g.64283715_64283717del NCBI36
NG_013018.1:g.6049_6051del

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.232_234del MANE Select ENSP00000164139.3:p.Lys78del
ENST00000164139.3:c.232_234del ENSP00000164139.3:p.Lys78del
ENST00000377432.7:c.232_234del ENSP00000366650.3:p.Lys78del
NM_001164716.1:c.232_234del NP_001158188.1:p.Lys78del
NM_005609.2:c.232_234del NP_005600.1:p.Lys78del
NM_005609.3:c.232_234del NP_005600.1:p.Lys78del
NM_005609.4:c.232_234del MANE Select NP_005600.1:p.Lys78del
Search 100 bp 5'
Search 100 bp 3'