Canonical Allele Identifier: CA2814348063

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572317_38572318insA , CM000681.2:g.38572317_38572318insA	GRCh38
NC_000019.9:g.39062957_39062958insA , CM000681.1:g.39062957_39062958insA	GRCh37
NC_000019.8:g.43754797_43754798insA	NCBI36
NG_008866.1:g.143618_143619insA , LRG_766:g.143618_143619insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+47_934+48insA
ENST00000688602.1:c.2331+47_2331+48insA
ENST00000689936.1:c.2303+47_2303+48insA
ENST00000359596.8:c.13998+47_13998+48insA MANE Select	ENSP00000352608.2:n.13998+47_13998+48insA
ENST00000355481.8:c.13983+47_13983+48insA	ENSP00000347667.3:n.13983+47_13983+48insA
ENST00000359596.7:c.13998+47_13998+48insA	ENSP00000352608.2:n.13998+47_13998+48insA
ENST00000360985.7:c.13980+47_13980+48insA	ENSP00000354254.4:n.13980+47_13980+48insA
NM_000540.2:c.13998+47_13998+48insA , LRG_766t1:c.13998+47_13998+48insA	NP_000531.2:n.13998+47_13998+48insA
NM_001042723.1:c.13983+47_13983+48insA	NP_001036188.1:n.13983+47_13983+48insA
XM_006723317.1:c.13980+47_13980+48insA	XP_006723380.1:n.13980+47_13980+48insA
XM_006723319.1:c.13965+47_13965+48insA	XP_006723382.1:n.13965+47_13965+48insA
XM_011527204.1:c.13995+47_13995+48insA	XP_011525506.1:n.13995+47_13995+48insA
XM_011527205.1:c.13911+47_13911+48insA	XP_011525507.1:n.13911+47_13911+48insA
XM_006723317.2:c.13980+47_13980+48insA	XP_006723380.1:n.13980+47_13980+48insA
XM_006723319.2:c.13965+47_13965+48insA	XP_006723382.1:n.13965+47_13965+48insA
XM_011527205.2:c.13911+47_13911+48insA	XP_011525507.1:n.13911+47_13911+48insA
NM_000540.3:c.13998+47_13998+48insA MANE Select	NP_000531.2:n.13998+47_13998+48insA
NM_001042723.2:c.13983+47_13983+48insA	NP_001036188.1:n.13983+47_13983+48insA