Canonical Allele Identifier: CA2584898023
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38486069-A-AGGCCCTGCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38486072_38486080dup , CM000681.2:g.38486072_38486080dup GRCh38
NC_000019.9:g.38976712_38976720dup , CM000681.1:g.38976712_38976720dup GRCh37
NC_000019.8:g.43668552_43668560dup NCBI36
NG_008866.1:g.57373_57381dup , LRG_766:g.57373_57381dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.5417_5425dup ENSP00000471601.2:p.Arg1808_Asp1809insAlaLeuArg
ENST00000359596.8:c.5417_5425dup MANE Select ENSP00000352608.2:p.Arg1808_Asp1809insAlaLeuArg
ENST00000355481.8:c.5417_5425dup ENSP00000347667.3:p.Arg1808_Asp1809insAlaLeuArg
ENST00000359596.7:c.5417_5425dup ENSP00000352608.2:p.Arg1808_Asp1809insAlaLeuArg
ENST00000360985.7:c.5414_5422dup ENSP00000354254.4:p.Arg1807_Asp1808insAlaLeuArg
NM_000540.2:c.5417_5425dup , LRG_766t1:c.5417_5425dup NP_000531.2:p.Arg1808_Asp1809insAlaLeuArg
NM_001042723.1:c.5417_5425dup NP_001036188.1:p.Arg1808_Asp1809insAlaLeuArg
XM_006723317.1:c.5417_5425dup XP_006723380.1:p.Arg1808_Asp1809insAlaLeuArg
XM_006723319.1:c.5417_5425dup XP_006723382.1:p.Arg1808_Asp1809insAlaLeuArg
XM_011527204.1:c.5414_5422dup XP_011525506.1:p.Arg1807_Asp1808insAlaLeuArg
XM_011527205.1:c.5417_5425dup XP_011525507.1:p.Arg1808_Asp1809insAlaLeuArg
XM_006723317.2:c.5417_5425dup XP_006723380.1:p.Arg1808_Asp1809insAlaLeuArg
XM_006723319.2:c.5417_5425dup XP_006723382.1:p.Arg1808_Asp1809insAlaLeuArg
XM_011527205.2:c.5417_5425dup XP_011525507.1:p.Arg1808_Asp1809insAlaLeuArg
XR_001753735.1:n.5500_5508dup
NM_000540.3:c.5417_5425dup MANE Select NP_000531.2:p.Arg1808_Asp1809insAlaLeuArg
NM_001042723.2:c.5417_5425dup NP_001036188.1:p.Arg1808_Asp1809insAlaLeuArg
Search 100 bp 5'
Search 100 bp 3'