Canonical Allele Identifier: CA2136419314

Gene: PYGL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50915786_50915792delinsTATGCTC , CM000676.2:g.50915786_50915792delinsTATGCTC	GRCh38
NC_000014.8:g.51382504_51382510delinsTATGCTC , CM000676.1:g.51382504_51382510delinsTATGCTC	GRCh37
NC_000014.7:g.50452254_50452260delinsTATGCTC	NCBI36
NG_012796.1:g.33739_33745delinsGAGCATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1239+33_1239+39delinsGAGCATA MANE Select	ENSP00000216392.7:n.1239+33_1239+39delinsGAGCATA
ENST00000216392.7:c.1239+33_1239+39delinsGAGCATA	ENSP00000216392.7:n.1239+33_1239+39delinsGAGCATA
ENST00000528757.2:n.116+33_116+39delinsGAGCATA
ENST00000532462.5:c.1239+33_1239+39delinsGAGCATA	ENSP00000431657.1:n.1239+33_1239+39delinsGAGCATA
ENST00000544180.6:c.1137+33_1137+39delinsGAGCATA	ENSP00000443787.1:n.1137+33_1137+39delinsGAGCATA
NM_001163940.1:c.1137+33_1137+39delinsGAGCATA	NP_001157412.1:n.1137+33_1137+39delinsGAGCATA
NM_002863.4:c.1239+33_1239+39delinsGAGCATA	NP_002854.3:n.1239+33_1239+39delinsGAGCATA
NM_002863.5:c.1239+33_1239+39delinsGAGCATA MANE Select	NP_002854.3:n.1239+33_1239+39delinsGAGCATA
NM_001163940.2:c.1137+33_1137+39delinsGAGCATA	NP_001157412.1:n.1137+33_1137+39delinsGAGCATA