Canonical Allele Identifier: CA2335089084

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38573419_38573420delinsCA , CM000681.2:g.38573419_38573420delinsCA	GRCh38
NC_000019.9:g.39064059_39064060delinsCA , CM000681.1:g.39064059_39064060delinsCA	GRCh37
NC_000019.8:g.43755899_43755900delinsCA	NCBI36
NG_008866.1:g.144720_144721delinsCA , LRG_766:g.144720_144721delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1065+112_1065+113delinsCA
ENST00000688602.1:c.2462+112_2462+113delinsCA
ENST00000689936.1:c.2434+112_2434+113delinsCA
ENST00000359596.8:c.14129+112_14129+113delinsCA MANE Select	ENSP00000352608.2:n.14129+112_14129+113delinsCA
ENST00000355481.8:c.14114+112_14114+113delinsCA	ENSP00000347667.3:n.14114+112_14114+113delinsCA
ENST00000359596.7:c.14129+112_14129+113delinsCA	ENSP00000352608.2:n.14129+112_14129+113delinsCA
ENST00000360985.7:c.14111+112_14111+113delinsCA	ENSP00000354254.4:n.14111+112_14111+113delinsCA
NM_000540.2:c.14129+112_14129+113delinsCA , LRG_766t1:c.14129+112_14129+113delinsCA	NP_000531.2:n.14129+112_14129+113delinsCA
NM_001042723.1:c.14114+112_14114+113delinsCA	NP_001036188.1:n.14114+112_14114+113delinsCA
XM_006723317.1:c.14111+112_14111+113delinsCA	XP_006723380.1:n.14111+112_14111+113delinsCA
XM_006723319.1:c.14096+112_14096+113delinsCA	XP_006723382.1:n.14096+112_14096+113delinsCA
XM_011527204.1:c.14126+112_14126+113delinsCA	XP_011525506.1:n.14126+112_14126+113delinsCA
XM_011527205.1:c.14042+112_14042+113delinsCA	XP_011525507.1:n.14042+112_14042+113delinsCA
XM_006723317.2:c.14111+112_14111+113delinsCA	XP_006723380.1:n.14111+112_14111+113delinsCA
XM_006723319.2:c.14096+112_14096+113delinsCA	XP_006723382.1:n.14096+112_14096+113delinsCA
XM_011527205.2:c.14042+112_14042+113delinsCA	XP_011525507.1:n.14042+112_14042+113delinsCA
NM_000540.3:c.14129+112_14129+113delinsCA MANE Select	NP_000531.2:n.14129+112_14129+113delinsCA
NM_001042723.2:c.14114+112_14114+113delinsCA	NP_001036188.1:n.14114+112_14114+113delinsCA