Canonical Allele Identifier: CA2584910721
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578123_38578124insGCCCCC , CM000681.2:g.38578123_38578124insGCCCCC GRCh38
NC_000019.9:g.39068763_39068764insGCCCCC , CM000681.1:g.39068763_39068764insGCCCCC GRCh37
NC_000019.8:g.43760603_43760604insGCCCCC NCBI36
NG_008866.1:g.149424_149425insGCCCCC , LRG_766:g.149424_149425insGCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-21_1240-20insGCCCCC
ENST00000688602.1:c.2637-21_2637-20insGCCCCC
ENST00000689936.1:c.2609-21_2609-20insGCCCCC
ENST00000359596.8:c.14304-21_14304-20insGCCCCC MANE Select ENSP00000352608.2:n.14304-21_14304-20insGCCCCC
ENST00000355481.8:c.14289-21_14289-20insGCCCCC ENSP00000347667.3:n.14289-21_14289-20insGCCCCC
ENST00000359596.7:c.14304-21_14304-20insGCCCCC ENSP00000352608.2:n.14304-21_14304-20insGCCCCC
ENST00000360985.7:c.14286-21_14286-20insGCCCCC ENSP00000354254.4:n.14286-21_14286-20insGCCCCC
NM_000540.2:c.14304-21_14304-20insGCCCCC , LRG_766t1:c.14304-21_14304-20insGCCCCC NP_000531.2:n.14304-21_14304-20insGCCCCC
NM_001042723.1:c.14289-21_14289-20insGCCCCC NP_001036188.1:n.14289-21_14289-20insGCCCCC
XM_006723317.1:c.14286-21_14286-20insGCCCCC XP_006723380.1:n.14286-21_14286-20insGCCCCC
XM_006723319.1:c.14271-21_14271-20insGCCCCC XP_006723382.1:n.14271-21_14271-20insGCCCCC
XM_011527204.1:c.14301-21_14301-20insGCCCCC XP_011525506.1:n.14301-21_14301-20insGCCCCC
XM_011527205.1:c.14217-21_14217-20insGCCCCC XP_011525507.1:n.14217-21_14217-20insGCCCCC
XM_006723317.2:c.14286-21_14286-20insGCCCCC XP_006723380.1:n.14286-21_14286-20insGCCCCC
XM_006723319.2:c.14271-21_14271-20insGCCCCC XP_006723382.1:n.14271-21_14271-20insGCCCCC
XM_011527205.2:c.14217-21_14217-20insGCCCCC XP_011525507.1:n.14217-21_14217-20insGCCCCC
NM_000540.3:c.14304-21_14304-20insGCCCCC MANE Select NP_000531.2:n.14304-21_14304-20insGCCCCC
NM_001042723.2:c.14289-21_14289-20insGCCCCC NP_001036188.1:n.14289-21_14289-20insGCCCCC