Canonical Allele Identifier: CA2335094711

Gene: RYR1

Linked Data

• dbSNP Id: rs1974379822

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584620_38584624del , CM000681.2:g.38584620_38584624del	GRCh38
NC_000019.9:g.39075260_39075264del , CM000681.1:g.39075260_39075264del	GRCh37
NC_000019.8:g.43767100_43767104del	NCBI36
NG_008866.1:g.155921_155925del , LRG_766:g.155921_155925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-323_1583-319del
ENST00000688602.1:c.2980-323_2980-319del
ENST00000689936.1:c.2952-323_2952-319del
ENST00000359596.8:c.14647-323_14647-319del MANE Select	ENSP00000352608.2:n.14647-323_14647-319del
ENST00000355481.8:c.14632-323_14632-319del	ENSP00000347667.3:n.14632-323_14632-319del
ENST00000359596.7:c.14647-323_14647-319del	ENSP00000352608.2:n.14647-323_14647-319del
ENST00000360985.7:c.14629-323_14629-319del	ENSP00000354254.4:n.14629-323_14629-319del
NM_000540.2:c.14647-323_14647-319del , LRG_766t1:c.14647-323_14647-319del	NP_000531.2:n.14647-323_14647-319del
NM_001042723.1:c.14632-323_14632-319del	NP_001036188.1:n.14632-323_14632-319del
XM_006723317.1:c.14629-323_14629-319del	XP_006723380.1:n.14629-323_14629-319del
XM_006723319.1:c.14614-323_14614-319del	XP_006723382.1:n.14614-323_14614-319del
XM_011527204.1:c.14644-323_14644-319del	XP_011525506.1:n.14644-323_14644-319del
XM_011527205.1:c.14560-323_14560-319del	XP_011525507.1:n.14560-323_14560-319del
XM_006723317.2:c.14629-323_14629-319del	XP_006723380.1:n.14629-323_14629-319del
XM_006723319.2:c.14614-323_14614-319del	XP_006723382.1:n.14614-323_14614-319del
XM_011527205.2:c.14560-323_14560-319del	XP_011525507.1:n.14560-323_14560-319del
NM_000540.3:c.14647-323_14647-319del MANE Select	NP_000531.2:n.14647-323_14647-319del
NM_001042723.2:c.14632-323_14632-319del	NP_001036188.1:n.14632-323_14632-319del