Canonical Allele Identifier: CA2584910723
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578123-T-TCCCCCCCCCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578127_38578128insCCCCCCCCCCC , CM000681.2:g.38578127_38578128insCCCCCCCCCCC GRCh38
NC_000019.9:g.39068767_39068768insCCCCCCCCCCC , CM000681.1:g.39068767_39068768insCCCCCCCCCCC GRCh37
NC_000019.8:g.43760607_43760608insCCCCCCCCCCC NCBI36
NG_008866.1:g.149428_149429insCCCCCCCCCCC , LRG_766:g.149428_149429insCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1240-17_1240-16insCCCCCCCCCCC
ENST00000688602.1:c.2637-17_2637-16insCCCCCCCCCCC
ENST00000689936.1:c.2609-17_2609-16insCCCCCCCCCCC
ENST00000359596.8:c.14304-17_14304-16insCCCCCCCCCCC MANE Select ENSP00000352608.2:n.14304-17_14304-16insCCCCCCCCCCC
ENST00000355481.8:c.14289-17_14289-16insCCCCCCCCCCC ENSP00000347667.3:n.14289-17_14289-16insCCCCCCCCCCC
ENST00000359596.7:c.14304-17_14304-16insCCCCCCCCCCC ENSP00000352608.2:n.14304-17_14304-16insCCCCCCCCCCC
ENST00000360985.7:c.14286-17_14286-16insCCCCCCCCCCC ENSP00000354254.4:n.14286-17_14286-16insCCCCCCCCCCC
NM_000540.2:c.14304-17_14304-16insCCCCCCCCCCC , LRG_766t1:c.14304-17_14304-16insCCCCCCCCCCC NP_000531.2:n.14304-17_14304-16insCCCCCCCCCCC
NM_001042723.1:c.14289-17_14289-16insCCCCCCCCCCC NP_001036188.1:n.14289-17_14289-16insCCCCCCCCCCC
XM_006723317.1:c.14286-17_14286-16insCCCCCCCCCCC XP_006723380.1:n.14286-17_14286-16insCCCCCCCCCCC
XM_006723319.1:c.14271-17_14271-16insCCCCCCCCCCC XP_006723382.1:n.14271-17_14271-16insCCCCCCCCCCC
XM_011527204.1:c.14301-17_14301-16insCCCCCCCCCCC XP_011525506.1:n.14301-17_14301-16insCCCCCCCCCCC
XM_011527205.1:c.14217-17_14217-16insCCCCCCCCCCC XP_011525507.1:n.14217-17_14217-16insCCCCCCCCCCC
XM_006723317.2:c.14286-17_14286-16insCCCCCCCCCCC XP_006723380.1:n.14286-17_14286-16insCCCCCCCCCCC
XM_006723319.2:c.14271-17_14271-16insCCCCCCCCCCC XP_006723382.1:n.14271-17_14271-16insCCCCCCCCCCC
XM_011527205.2:c.14217-17_14217-16insCCCCCCCCCCC XP_011525507.1:n.14217-17_14217-16insCCCCCCCCCCC
NM_000540.3:c.14304-17_14304-16insCCCCCCCCCCC MANE Select NP_000531.2:n.14304-17_14304-16insCCCCCCCCCCC
NM_001042723.2:c.14289-17_14289-16insCCCCCCCCCCC NP_001036188.1:n.14289-17_14289-16insCCCCCCCCCCC
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