Canonical Allele Identifier: CA2335094749

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584653_38584686delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , CM000681.2:g.38584653_38584686delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	GRCh38
NC_000019.9:g.39075293_39075326delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , CM000681.1:g.39075293_39075326delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	GRCh37
NC_000019.8:g.43767133_43767166delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NCBI36
NG_008866.1:g.155954_155987delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , LRG_766:g.155954_155987delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-290_1583-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC
ENST00000688602.1:c.2980-290_2980-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC
ENST00000689936.1:c.2952-290_2952-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC
ENST00000359596.8:c.14647-290_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC MANE Select	ENSP00000352608.2:n.14647-290_14647-257delinsTATCCTGGCCCTGACC...
ENST00000355481.8:c.14632-290_14632-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	ENSP00000347667.3:n.14632-290_14632-257delinsTATCCTGGCCCTGACC...
ENST00000359596.7:c.14647-290_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	ENSP00000352608.2:n.14647-290_14647-257delinsTATCCTGGCCCTGACC...
ENST00000360985.7:c.14629-290_14629-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	ENSP00000354254.4:n.14629-290_14629-257delinsTATCCTGGCCCTGACC...
NM_000540.2:c.14647-290_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC , LRG_766t1:c.14647-290_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NP_000531.2:n.14647-290_14647-257delinsTATCCTGGCCCTGACCCCTCTG...
NM_001042723.1:c.14632-290_14632-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NP_001036188.1:n.14632-290_14632-257delinsTATCCTGGCCCTGACCCCT...
XM_006723317.1:c.14629-290_14629-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723380.1:n.14629-290_14629-257delinsTATCCTGGCCCTGACCCCT...
XM_006723319.1:c.14614-290_14614-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723382.1:n.14614-290_14614-257delinsTATCCTGGCCCTGACCCCT...
XM_011527204.1:c.14644-290_14644-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_011525506.1:n.14644-290_14644-257delinsTATCCTGGCCCTGACCCCT...
XM_011527205.1:c.14560-290_14560-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_011525507.1:n.14560-290_14560-257delinsTATCCTGGCCCTGACCCCT...
XM_006723317.2:c.14629-290_14629-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723380.1:n.14629-290_14629-257delinsTATCCTGGCCCTGACCCCT...
XM_006723319.2:c.14614-290_14614-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_006723382.1:n.14614-290_14614-257delinsTATCCTGGCCCTGACCCCT...
XM_011527205.2:c.14560-290_14560-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	XP_011525507.1:n.14560-290_14560-257delinsTATCCTGGCCCTGACCCCT...
NM_000540.3:c.14647-290_14647-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC MANE Select	NP_000531.2:n.14647-290_14647-257delinsTATCCTGGCCCTGACCCCTCTG...
NM_001042723.2:c.14632-290_14632-257delinsTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCC	NP_001036188.1:n.14632-290_14632-257delinsTATCCTGGCCCTGACCCCT...