Canonical Allele Identifier: CA2584893034
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38446517-T-TGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446518_38446520dup , CM000681.2:g.38446518_38446520dup GRCh38
NC_000019.9:g.38937158_38937160dup , CM000681.1:g.38937158_38937160dup GRCh37
NC_000019.8:g.43628998_43629000dup NCBI36
NG_008866.1:g.17819_17821dup , LRG_766:g.17819_17821dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.678_680dup ENSP00000471601.2:p.Met226_Asp227insGlu
ENST00000359596.8:c.678_680dup MANE Select ENSP00000352608.2:p.Met226_Asp227insGlu
ENST00000355481.8:c.678_680dup ENSP00000347667.3:p.Met226_Asp227insGlu
ENST00000359596.7:c.678_680dup ENSP00000352608.2:p.Met226_Asp227insGlu
ENST00000360985.7:c.678_680dup ENSP00000354254.4:p.Met226_Asp227insGlu
NM_000540.2:c.678_680dup , LRG_766t1:c.678_680dup NP_000531.2:p.Met226_Asp227insGlu
NM_001042723.1:c.678_680dup NP_001036188.1:p.Met226_Asp227insGlu
XM_006723317.1:c.678_680dup XP_006723380.1:p.Met226_Asp227insGlu
XM_006723319.1:c.678_680dup XP_006723382.1:p.Met226_Asp227insGlu
XM_011527204.1:c.678_680dup XP_011525506.1:p.Met226_Asp227insGlu
XM_011527205.1:c.678_680dup XP_011525507.1:p.Met226_Asp227insGlu
XM_006723317.2:c.678_680dup XP_006723380.1:p.Met226_Asp227insGlu
XM_006723319.2:c.678_680dup XP_006723382.1:p.Met226_Asp227insGlu
XM_011527205.2:c.678_680dup XP_011525507.1:p.Met226_Asp227insGlu
XR_001753735.1:n.761_763dup
NM_000540.3:c.678_680dup MANE Select NP_000531.2:p.Met226_Asp227insGlu
NM_001042723.2:c.678_680dup NP_001036188.1:p.Met226_Asp227insGlu
Search 100 bp 5'
Search 100 bp 3'