Canonical Allele Identifier: CA356528

Gene: PYGL

Linked Data

• PubMed: PMID:17705025 ; PMID:20301760

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.[50911726_50911729del;50911730_50911735delinsAAAAAG] , CM000676.2:g.[50911726_50911729del;50911730_50911735delinsAAAAAG]	GRCh38
NC_000014.8:g.[51378444_51378447del;51378448_51378453delinsAAAAAG] , CM000676.1:g.[51378444_51378447del;51378448_51378453delinsAAAAAG]	GRCh37
NC_000014.7:g.[50448194_50448197del;50448198_50448203delinsAAAAAG]	NCBI36
NG_012796.1:g.[37796_37801delinsCTTTTT;37802_37805del]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.[1964_1969delinsCTTTTT;1969+1_1969+4del] MANE Select	ENSP00000216392.7:p.Glu655_Val657delinsAlaPhePhe
ENST00000216392.7:c.[1964_1969delinsCTTTTT;1969+1_1969+4del]	ENSP00000216392.7:p.Glu655_Val657delinsAlaPhePhe
ENST00000532107.2:n.[137_142delinsCTTTTT;142+1_142+4del]
ENST00000532462.5:c.[1964_1969delinsCTTTTT;1969+1_1969+4del]	ENSP00000431657.1:p.Glu655_Val657delinsAlaPhePhe
ENST00000544180.6:c.[1862_1867delinsCTTTTT;1867+1_1867+4del]	ENSP00000443787.1:p.Glu621_Val623delinsAlaPhePhe
NM_001163940.1:c.[1862_1867delinsCTTTTT;1867+1_1867+4del]	NP_001157412.1:p.Glu621_Val623delinsAlaPhePhe
NM_002863.4:c.[1964_1969delinsCTTTTT;1969+1_1969+4del]	NP_002854.3:p.Glu655_Val657delinsAlaPhePhe
NM_002863.5:c.[1964_1969delinsCTTTTT;1969+1_1969+4del] MANE Select	NP_002854.3:p.Glu655_Val657delinsAlaPhePhe
NM_001163940.2:c.[1862_1867delinsCTTTTT;1867+1_1867+4del]	NP_001157412.1:p.Glu621_Val623delinsAlaPhePhe