Canonical Allele Identifier: CA024253
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs193922893

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38585075_38585080del , CM000681.2:g.38585075_38585080del GRCh38
NC_000019.9:g.39075715_39075720del , CM000681.1:g.39075715_39075720del GRCh37
NC_000019.8:g.43767555_43767560del NCBI36
NG_008866.1:g.156376_156381del , LRG_766:g.156376_156381del

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1715_1720del
ENST00000688602.1:c.3112_3117del
ENST00000689936.1:c.3084_3089del
ENST00000692547.1:n.172_177del
ENST00000359596.8:c.14779_14784del MANE Select ENSP00000352608.2:p.Val4927_Ile4928del
ENST00000355481.8:c.14764_14769del ENSP00000347667.3:p.Val4922_Ile4923del
ENST00000359596.7:c.14779_14784del ENSP00000352608.2:p.Val4927_Ile4928del
ENST00000360985.7:c.14761_14766del ENSP00000354254.4:p.Val4921_Ile4922del
NM_000540.2:c.14779_14784del , LRG_766t1:c.14779_14784del NP_000531.2:p.Val4927_Ile4928del
NM_001042723.1:c.14764_14769del NP_001036188.1:p.Val4922_Ile4923del
XM_006723317.1:c.14761_14766del XP_006723380.1:p.Val4921_Ile4922del
XM_006723319.1:c.14746_14751del XP_006723382.1:p.Val4916_Ile4917del
XM_011527204.1:c.14776_14781del XP_011525506.1:p.Val4926_Ile4927del
XM_011527205.1:c.14692_14697del XP_011525507.1:p.Val4898_Ile4899del
XM_006723317.2:c.14761_14766del XP_006723380.1:p.Val4921_Ile4922del
XM_006723319.2:c.14746_14751del XP_006723382.1:p.Val4916_Ile4917del
XM_011527205.2:c.14692_14697del XP_011525507.1:p.Val4898_Ile4899del
NM_000540.3:c.14779_14784del MANE Select NP_000531.2:p.Val4927_Ile4928del
NM_001042723.2:c.14764_14769del NP_001036188.1:p.Val4922_Ile4923del