Canonical Allele Identifier: CA2624827335

Gene: PYGL

Linked Data

• gnomAD v4: 14-50910219-G-GTAGCTCACCACTTTCTAGGACAGCGAGTTCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50910219_50910220insTAGCTCACCACTTTCTAGGACAGCGAGTTCAC , CM000676.2:g.50910219_50910220insTAGCTCACCACTTTCTAGGACAGCGAGTTCAC	GRCh38
NC_000014.8:g.51376937_51376938insTAGCTCACCACTTTCTAGGACAGCGAGTTCAC , CM000676.1:g.51376937_51376938insTAGCTCACCACTTTCTAGGACAGCGAGTTCAC	GRCh37
NC_000014.7:g.50446687_50446688insTAGCTCACCACTTTCTAGGACAGCGAGTTCAC	NCBI36
NG_012796.1:g.39311_39312insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216392.8:c.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA MANE Select	ENSP00000216392.7:n.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAA...
ENST00000216392.7:c.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA	ENSP00000216392.7:n.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAA...
ENST00000532107.2:n.143-118_143-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA
ENST00000532462.5:c.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA	ENSP00000431657.1:n.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAA...
ENST00000544180.6:c.1868-118_1868-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA	ENSP00000443787.1:n.1868-118_1868-117insGTGAACTCGCTGTCCTAGAAA...
NM_001163940.1:c.1868-118_1868-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA	NP_001157412.1:n.1868-118_1868-117insGTGAACTCGCTGTCCTAGAAAGTG...
NM_002863.4:c.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA	NP_002854.3:n.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAAGTGGTG...
NM_002863.5:c.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA MANE Select	NP_002854.3:n.1970-118_1970-117insGTGAACTCGCTGTCCTAGAAAGTGGTG...
NM_001163940.2:c.1868-118_1868-117insGTGAACTCGCTGTCCTAGAAAGTGGTGAGCTA	NP_001157412.1:n.1868-118_1868-117insGTGAACTCGCTGTCCTAGAAAGTG...