Canonical Allele Identifier: CA2586290345

Gene: GYS1

Linked Data

• gnomAD v4: 19-48974737-C-CCCTCACCTTCACCCTGTCGGCACTGCTATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974737_48974738insCCTCACCTTCACCCTGTCGGCACTGCTATTG , CM000681.2:g.48974737_48974738insCCTCACCTTCACCCTGTCGGCACTGCTATTG	GRCh38
NC_000019.9:g.49477994_49477995insCCTCACCTTCACCCTGTCGGCACTGCTATTG , CM000681.1:g.49477994_49477995insCCTCACCTTCACCCTGTCGGCACTGCTATTG	GRCh37
NC_000019.8:g.54169806_54169807insCCTCACCTTCACCCTGTCGGCACTGCTATTG	NCBI36
NG_012923.1:g.23616_23617insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG MANE Select	ENSP00000317904.3:n.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAG...
ENST00000263276.6:c.1117-5_1117-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG	ENSP00000263276.6:n.1117-5_1117-4insCAATAGCAGTGCCGACAGGGTGAAG...
ENST00000323798.7:c.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG	ENSP00000317904.3:n.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAG...
ENST00000472004.5:n.64-5_64-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG
ENST00000496048.1:n.216-5_216-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG
NM_001161587.1:c.1117-5_1117-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG	NP_001155059.1:n.1117-5_1117-4insCAATAGCAGTGCCGACAGGGTGAAGGTG...
NM_002103.4:c.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG	NP_002094.2:n.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG...
NR_027763.1:n.1368-5_1368-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG
NM_002103.5:c.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG MANE Select	NP_002094.2:n.1309-5_1309-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG...
NM_001161587.2:c.1117-5_1117-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG	NP_001155059.1:n.1117-5_1117-4insCAATAGCAGTGCCGACAGGGTGAAGGTG...
NR_027763.2:n.1324-5_1324-4insCAATAGCAGTGCCGACAGGGTGAAGGTGAGG