Canonical Allele Identifier: CA2575525384

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50911675_50911695del , CM000676.2:g.50911675_50911695del	GRCh38
NC_000014.8:g.51378393_51378413del , CM000676.1:g.51378393_51378413del	GRCh37
NC_000014.7:g.50448143_50448163del	NCBI36
NG_012796.1:g.37838_37858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1969+37_1969+57del MANE Select	ENSP00000216392.7:n.1969+37_1969+57del
ENST00000216392.7:c.1969+37_1969+57del	ENSP00000216392.7:n.1969+37_1969+57del
ENST00000532107.2:n.142+37_142+57del
ENST00000532462.5:c.1969+37_1969+57del	ENSP00000431657.1:n.1969+37_1969+57del
ENST00000544180.6:c.1867+37_1867+57del	ENSP00000443787.1:n.1867+37_1867+57del
NM_001163940.1:c.1867+37_1867+57del	NP_001157412.1:n.1867+37_1867+57del
NM_002863.4:c.1969+37_1969+57del	NP_002854.3:n.1969+37_1969+57del
NM_002863.5:c.1969+37_1969+57del MANE Select	NP_002854.3:n.1969+37_1969+57del
NM_001163940.2:c.1867+37_1867+57del	NP_001157412.1:n.1867+37_1867+57del