Canonical Allele Identifier: CA2736062808
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs2145888965
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578122_38578123insGGGGGG , CM000681.2:g.38578122_38578123insGGGGGG GRCh38
NC_000019.9:g.39068762_39068763insGGGGGG , CM000681.1:g.39068762_39068763insGGGGGG GRCh37
NC_000019.8:g.43760602_43760603insGGGGGG NCBI36
NG_008866.1:g.149423_149424insGGGGGG , LRG_766:g.149423_149424insGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-22_1240-21insGGGGGG
ENST00000688602.1:c.2637-22_2637-21insGGGGGG
ENST00000689936.1:c.2609-22_2609-21insGGGGGG
ENST00000359596.8:c.14304-22_14304-21insGGGGGG MANE Select ENSP00000352608.2:n.14304-22_14304-21insGGGGGG
ENST00000355481.8:c.14289-22_14289-21insGGGGGG ENSP00000347667.3:n.14289-22_14289-21insGGGGGG
ENST00000359596.7:c.14304-22_14304-21insGGGGGG ENSP00000352608.2:n.14304-22_14304-21insGGGGGG
ENST00000360985.7:c.14286-22_14286-21insGGGGGG ENSP00000354254.4:n.14286-22_14286-21insGGGGGG
NM_000540.2:c.14304-22_14304-21insGGGGGG , LRG_766t1:c.14304-22_14304-21insGGGGGG NP_000531.2:n.14304-22_14304-21insGGGGGG
NM_001042723.1:c.14289-22_14289-21insGGGGGG NP_001036188.1:n.14289-22_14289-21insGGGGGG
XM_006723317.1:c.14286-22_14286-21insGGGGGG XP_006723380.1:n.14286-22_14286-21insGGGGGG
XM_006723319.1:c.14271-22_14271-21insGGGGGG XP_006723382.1:n.14271-22_14271-21insGGGGGG
XM_011527204.1:c.14301-22_14301-21insGGGGGG XP_011525506.1:n.14301-22_14301-21insGGGGGG
XM_011527205.1:c.14217-22_14217-21insGGGGGG XP_011525507.1:n.14217-22_14217-21insGGGGGG
XM_006723317.2:c.14286-22_14286-21insGGGGGG XP_006723380.1:n.14286-22_14286-21insGGGGGG
XM_006723319.2:c.14271-22_14271-21insGGGGGG XP_006723382.1:n.14271-22_14271-21insGGGGGG
XM_011527205.2:c.14217-22_14217-21insGGGGGG XP_011525507.1:n.14217-22_14217-21insGGGGGG
NM_000540.3:c.14304-22_14304-21insGGGGGG MANE Select NP_000531.2:n.14304-22_14304-21insGGGGGG
NM_001042723.2:c.14289-22_14289-21insGGGGGG NP_001036188.1:n.14289-22_14289-21insGGGGGG
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