Canonical Allele Identifier: CA2584892633
Gene: RYR1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38444298_38444299insAGCA , CM000681.2:g.38444298_38444299insAGCA GRCh38
NC_000019.9:g.38934938_38934939insAGCA , CM000681.1:g.38934938_38934939insAGCA GRCh37
NC_000019.8:g.43626778_43626779insAGCA NCBI36
NG_008866.1:g.15599_15600insAGCA , LRG_766:g.15599_15600insAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.537+37_537+38insAGCA ENSP00000471601.2:n.537+37_537+38insAGCA
ENST00000359596.8:c.537+37_537+38insAGCA MANE Select ENSP00000352608.2:n.537+37_537+38insAGCA
ENST00000355481.8:c.537+37_537+38insAGCA ENSP00000347667.3:n.537+37_537+38insAGCA
ENST00000359596.7:c.537+37_537+38insAGCA ENSP00000352608.2:n.537+37_537+38insAGCA
ENST00000360985.7:c.537+37_537+38insAGCA ENSP00000354254.4:n.537+37_537+38insAGCA
NM_000540.2:c.537+37_537+38insAGCA , LRG_766t1:c.537+37_537+38insAGCA NP_000531.2:n.537+37_537+38insAGCA
NM_001042723.1:c.537+37_537+38insAGCA NP_001036188.1:n.537+37_537+38insAGCA
XM_006723317.1:c.537+37_537+38insAGCA XP_006723380.1:n.537+37_537+38insAGCA
XM_006723319.1:c.537+37_537+38insAGCA XP_006723382.1:n.537+37_537+38insAGCA
XM_011527204.1:c.537+37_537+38insAGCA XP_011525506.1:n.537+37_537+38insAGCA
XM_011527205.1:c.537+37_537+38insAGCA XP_011525507.1:n.537+37_537+38insAGCA
XM_006723317.2:c.537+37_537+38insAGCA XP_006723380.1:n.537+37_537+38insAGCA
XM_006723319.2:c.537+37_537+38insAGCA XP_006723382.1:n.537+37_537+38insAGCA
XM_011527205.2:c.537+37_537+38insAGCA XP_011525507.1:n.537+37_537+38insAGCA
XR_001753735.1:n.620+37_620+38insAGCA
NM_000540.3:c.537+37_537+38insAGCA MANE Select NP_000531.2:n.537+37_537+38insAGCA
NM_001042723.2:c.537+37_537+38insAGCA NP_001036188.1:n.537+37_537+38insAGCA