Canonical Allele Identifier: CA2838031920

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50908981_50912564del , CM000676.2:g.50908981_50912564del	GRCh38
NC_000014.8:g.51375699_51379282del , CM000676.1:g.51375699_51379282del	GRCh37
NC_000014.7:g.50445449_50449032del	NCBI36
NG_012796.1:g.36970_40553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1621-258_2178-23del
ENST00000216392.7:c.1621-258_2178-23del
ENST00000532462.5:c.1621-258_2178-23del
ENST00000544180.6:c.1519-258_2076-23del
NM_001163940.1:c.1519-258_2076-23del
NM_002863.4:c.1621-258_2178-23del
NM_002863.5:c.1621-258_2178-23del
NM_001163940.2:c.1519-258_2076-23del