Canonical Allele Identifier: CA633066206
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v2: 19-38993374-C-CGGGGCAGGCTTCAGGGT
gnomAD v3: 19-38502734-C-CGGGGCAGGCTTCAGGGT
gnomAD v4: 19-38502734-C-CGGGGCAGGCTTCAGGGT
MyVariant Identifiers: chr19:g.38993400_38993409delinsCTTCAGGGTGGGGCAGGGGCAGGGGCA (hg19) chr19:g.38502760_38502769delinsCTTCAGGGTGGGGCAGGGGCAGGGGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502743_38502759dup , CM000681.2:g.38502743_38502759dup GRCh38
NC_000019.9:g.38993383_38993399dup , CM000681.1:g.38993383_38993399dup GRCh37
NC_000019.8:g.43685223_43685239dup NCBI36
NG_008866.1:g.74044_74060dup , LRG_766:g.74044_74060dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+16_7835+32dup ENSP00000471601.2:n.7835+16_7835+32dup
ENST00000359596.8:c.7835+16_7835+32dup MANE Select ENSP00000352608.2:n.7835+16_7835+32dup
ENST00000355481.8:c.7835+16_7835+32dup ENSP00000347667.3:n.7835+16_7835+32dup
ENST00000359596.7:c.7835+16_7835+32dup ENSP00000352608.2:n.7835+16_7835+32dup
ENST00000360985.7:c.7832+16_7832+32dup ENSP00000354254.4:n.7832+16_7832+32dup
ENST00000594335.5:c.1287+16_1287+32dup
NM_000540.2:c.7835+16_7835+32dup , LRG_766t1:c.7835+16_7835+32dup NP_000531.2:n.7835+16_7835+32dup
NM_001042723.1:c.7835+16_7835+32dup NP_001036188.1:n.7835+16_7835+32dup
XM_006723317.1:c.7835+16_7835+32dup XP_006723380.1:n.7835+16_7835+32dup
XM_006723319.1:c.7835+16_7835+32dup XP_006723382.1:n.7835+16_7835+32dup
XM_011527204.1:c.7832+16_7832+32dup XP_011525506.1:n.7832+16_7832+32dup
XM_011527205.1:c.7835+16_7835+32dup XP_011525507.1:n.7835+16_7835+32dup
XM_006723317.2:c.7835+16_7835+32dup XP_006723380.1:n.7835+16_7835+32dup
XM_006723319.2:c.7835+16_7835+32dup XP_006723382.1:n.7835+16_7835+32dup
XM_011527205.2:c.7835+16_7835+32dup XP_011525507.1:n.7835+16_7835+32dup
XR_001753735.1:n.7918+16_7918+32dup
NM_000540.3:c.7835+16_7835+32dup MANE Select NP_000531.2:n.7835+16_7835+32dup
NM_001042723.2:c.7835+16_7835+32dup NP_001036188.1:n.7835+16_7835+32dup
Search 100 bp 5'
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