Canonical Allele Identifier: CA2335074473

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38543696_38543697delinsAG , CM000681.2:g.38543696_38543697delinsAG	GRCh38
NC_000019.9:g.39034336_39034337delinsAG , CM000681.1:g.39034336_39034337delinsAG	GRCh37
NC_000019.8:g.43726176_43726177delinsAG	NCBI36
NG_008866.1:g.114997_114998delinsAG , LRG_766:g.114997_114998delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.317+36_317+37delinsAG
ENST00000689936.1:c.299+36_299+37delinsAG
ENST00000359596.8:c.11907+36_11907+37delinsAG MANE Select	ENSP00000352608.2:n.11907+36_11907+37delinsAG
ENST00000355481.8:c.11892+36_11892+37delinsAG	ENSP00000347667.3:n.11892+36_11892+37delinsAG
ENST00000359596.7:c.11907+36_11907+37delinsAG	ENSP00000352608.2:n.11907+36_11907+37delinsAG
ENST00000360985.7:c.11889+36_11889+37delinsAG	ENSP00000354254.4:n.11889+36_11889+37delinsAG
ENST00000593322.1:c.516+36_516+37delinsAG
ENST00000594335.5:c.5276+36_5276+37delinsAG
NM_000540.2:c.11907+36_11907+37delinsAG , LRG_766t1:c.11907+36_11907+37delinsAG	NP_000531.2:n.11907+36_11907+37delinsAG
NM_001042723.1:c.11892+36_11892+37delinsAG	NP_001036188.1:n.11892+36_11892+37delinsAG
XM_006723317.1:c.11889+36_11889+37delinsAG	XP_006723380.1:n.11889+36_11889+37delinsAG
XM_006723319.1:c.11874+36_11874+37delinsAG	XP_006723382.1:n.11874+36_11874+37delinsAG
XM_011527204.1:c.11904+36_11904+37delinsAG	XP_011525506.1:n.11904+36_11904+37delinsAG
XM_011527205.1:c.11907+36_11907+37delinsAG	XP_011525507.1:n.11907+36_11907+37delinsAG
XM_006723317.2:c.11889+36_11889+37delinsAG	XP_006723380.1:n.11889+36_11889+37delinsAG
XM_006723319.2:c.11874+36_11874+37delinsAG	XP_006723382.1:n.11874+36_11874+37delinsAG
XM_011527205.2:c.11907+36_11907+37delinsAG	XP_011525507.1:n.11907+36_11907+37delinsAG
NM_000540.3:c.11907+36_11907+37delinsAG MANE Select	NP_000531.2:n.11907+36_11907+37delinsAG
NM_001042723.2:c.11892+36_11892+37delinsAG	NP_001036188.1:n.11892+36_11892+37delinsAG