Canonical Allele Identifier: CA389682955
Gene: PYGL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50911728_50911732del , CM000676.2:g.50911728_50911732del GRCh38
NC_000014.8:g.51378446_51378450del , CM000676.1:g.51378446_51378450del GRCh37
NC_000014.7:g.50448196_50448200del NCBI36
NG_012796.1:g.37800_37804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216392.8:c.1968_1969+3del
ENST00000216392.7:c.1968_1969+3del
ENST00000532107.2:n.141_142+3del
ENST00000532462.5:c.1968_1969+3del
ENST00000544180.6:c.1866_1867+3del
NM_001163940.1:c.1866_1867+3del
NM_002863.4:c.1968_1969+3del
NM_002863.5:c.1968_1969+3del
NM_001163940.2:c.1866_1867+3del