Canonical Allele Identifier: CA2136415216

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910304_50910306delinsATT , CM000676.2:g.50910304_50910306delinsATT	GRCh38
NC_000014.8:g.51377022_51377024delinsATT , CM000676.1:g.51377022_51377024delinsATT	GRCh37
NC_000014.7:g.50446772_50446774delinsATT	NCBI36
NG_012796.1:g.39225_39227delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-204_1970-202delinsAAT MANE Select	ENSP00000216392.7:n.1970-204_1970-202delinsAAT
ENST00000216392.7:c.1970-204_1970-202delinsAAT	ENSP00000216392.7:n.1970-204_1970-202delinsAAT
ENST00000532107.2:n.143-204_143-202delinsAAT
ENST00000532462.5:c.1970-204_1970-202delinsAAT	ENSP00000431657.1:n.1970-204_1970-202delinsAAT
ENST00000544180.6:c.1868-204_1868-202delinsAAT	ENSP00000443787.1:n.1868-204_1868-202delinsAAT
NM_001163940.1:c.1868-204_1868-202delinsAAT	NP_001157412.1:n.1868-204_1868-202delinsAAT
NM_002863.4:c.1970-204_1970-202delinsAAT	NP_002854.3:n.1970-204_1970-202delinsAAT
NM_002863.5:c.1970-204_1970-202delinsAAT MANE Select	NP_002854.3:n.1970-204_1970-202delinsAAT
NM_001163940.2:c.1868-204_1868-202delinsAAT	NP_001157412.1:n.1868-204_1868-202delinsAAT