Canonical Allele Identifier: CA2838147837

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50908982_50912562del , CM000676.2:g.50908982_50912562del	GRCh38
NC_000014.8:g.51375700_51379280del , CM000676.1:g.51375700_51379280del	GRCh37
NC_000014.7:g.50445450_50449030del	NCBI36
NG_012796.1:g.36970_40550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1621-258_2178-26del
ENST00000216392.7:c.1621-258_2178-26del
ENST00000532462.5:c.1621-258_2178-26del
ENST00000544180.6:c.1519-258_2076-26del
NM_001163940.1:c.1519-258_2076-26del
NM_002863.4:c.1621-258_2178-26del
NM_002863.5:c.1621-258_2178-26del
NM_001163940.2:c.1519-258_2076-26del