Canonical Allele Identifier: CA633066870

Gene: RYR1

Linked Data

• gnomAD v2: 19-39062956-T-TGGGGGGGGG
• MyVariant Identifiers: chr19:g.39062956_39062957insGGGGGGGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572321_38572322insGGGGGGGGG , CM000681.2:g.38572321_38572322insGGGGGGGGG	GRCh38
NC_000019.9:g.39062961_39062962insGGGGGGGGG , CM000681.1:g.39062961_39062962insGGGGGGGGG	GRCh37
NC_000019.8:g.43754801_43754802insGGGGGGGGG	NCBI36
NG_008866.1:g.143622_143623insGGGGGGGGG , LRG_766:g.143622_143623insGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+51_934+52insGGGGGGGGG
ENST00000688602.1:c.2331+51_2331+52insGGGGGGGGG
ENST00000689936.1:c.2303+51_2303+52insGGGGGGGGG
ENST00000359596.8:c.13998+51_13998+52insGGGGGGGGG MANE Select	ENSP00000352608.2:n.13998+51_13998+52insGGGGGGGGG
ENST00000355481.8:c.13983+51_13983+52insGGGGGGGGG	ENSP00000347667.3:n.13983+51_13983+52insGGGGGGGGG
ENST00000359596.7:c.13998+51_13998+52insGGGGGGGGG	ENSP00000352608.2:n.13998+51_13998+52insGGGGGGGGG
ENST00000360985.7:c.13980+51_13980+52insGGGGGGGGG	ENSP00000354254.4:n.13980+51_13980+52insGGGGGGGGG
NM_000540.2:c.13998+51_13998+52insGGGGGGGGG , LRG_766t1:c.13998+51_13998+52insGGGGGGGGG	NP_000531.2:n.13998+51_13998+52insGGGGGGGGG
NM_001042723.1:c.13983+51_13983+52insGGGGGGGGG	NP_001036188.1:n.13983+51_13983+52insGGGGGGGGG
XM_006723317.1:c.13980+51_13980+52insGGGGGGGGG	XP_006723380.1:n.13980+51_13980+52insGGGGGGGGG
XM_006723319.1:c.13965+51_13965+52insGGGGGGGGG	XP_006723382.1:n.13965+51_13965+52insGGGGGGGGG
XM_011527204.1:c.13995+51_13995+52insGGGGGGGGG	XP_011525506.1:n.13995+51_13995+52insGGGGGGGGG
XM_011527205.1:c.13911+51_13911+52insGGGGGGGGG	XP_011525507.1:n.13911+51_13911+52insGGGGGGGGG
XM_006723317.2:c.13980+51_13980+52insGGGGGGGGG	XP_006723380.1:n.13980+51_13980+52insGGGGGGGGG
XM_006723319.2:c.13965+51_13965+52insGGGGGGGGG	XP_006723382.1:n.13965+51_13965+52insGGGGGGGGG
XM_011527205.2:c.13911+51_13911+52insGGGGGGGGG	XP_011525507.1:n.13911+51_13911+52insGGGGGGGGG
NM_000540.3:c.13998+51_13998+52insGGGGGGGGG MANE Select	NP_000531.2:n.13998+51_13998+52insGGGGGGGGG
NM_001042723.2:c.13983+51_13983+52insGGGGGGGGG	NP_001036188.1:n.13983+51_13983+52insGGGGGGGGG