Canonical Allele Identifier: CA2136416411
Gene: PYGL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911725_50911730delinsAGTACC , CM000676.2:g.50911725_50911730delinsAGTACC GRCh38
NC_000014.8:g.51378443_51378448delinsAGTACC , CM000676.1:g.51378443_51378448delinsAGTACC GRCh37
NC_000014.7:g.50448193_50448198delinsAGTACC NCBI36
NG_012796.1:g.37801_37806delinsGGTACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1969_1969+5delinsGGTACT
ENST00000216392.7:c.1969_1969+5delinsGGTACT
ENST00000532107.2:n.142_142+5delinsGGTACT
ENST00000532462.5:c.1969_1969+5delinsGGTACT
ENST00000544180.6:c.1867_1867+5delinsGGTACT
NM_001163940.1:c.1867_1867+5delinsGGTACT
NM_002863.4:c.1969_1969+5delinsGGTACT
NM_002863.5:c.1969_1969+5delinsGGTACT
NM_001163940.2:c.1867_1867+5delinsGGTACT