Canonical Allele Identifier: CA2614197239

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753489-G-GGCCTCTCAGAGGCGTTGAGTGGGAGTTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753489_64753490insGCCTCTCAGAGGCGTTGAGTGGGAGTTTCC , CM000673.2:g.64753489_64753490insGCCTCTCAGAGGCGTTGAGTGGGAGTTTCC	GRCh38
NC_000011.9:g.64520961_64520962insGCCTCTCAGAGGCGTTGAGTGGGAGTTTCC , CM000673.1:g.64520961_64520962insGCCTCTCAGAGGCGTTGAGTGGGAGTTTCC	GRCh37
NC_000011.8:g.64277537_64277538insGCCTCTCAGAGGCGTTGAGTGGGAGTTTCC	NCBI36
NG_013018.1:g.12226_12227insGGAAACTCCCACTCAACGCCTCTGAGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGGC MANE Select	ENSP00000164139.3:n.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCT...
ENST00000164139.3:c.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGGC	ENSP00000164139.3:n.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCT...
ENST00000377432.7:c.1139+29_1139+30insGGAAACTCCCACTCAACGCCTCTGAGAGGC	ENSP00000366650.3:n.1139+29_1139+30insGGAAACTCCCACTCAACGCCTCT...
NM_001164716.1:c.1139+29_1139+30insGGAAACTCCCACTCAACGCCTCTGAGAGGC	NP_001158188.1:n.1139+29_1139+30insGGAAACTCCCACTCAACGCCTCTGAG...
NM_005609.2:c.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGGC	NP_005600.1:n.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGG...
NM_005609.3:c.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGGC	NP_005600.1:n.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGG...
NM_005609.4:c.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGGC MANE Select	NP_005600.1:n.1403+29_1403+30insGGAAACTCCCACTCAACGCCTCTGAGAGG...