Canonical Allele Identifier: CA2335084674
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565143_38565164delinsCGGGCGCGGAAGGCGCGGAGGA , CM000681.2:g.38565143_38565164delinsCGGGCGCGGAAGGCGCGGAGGA GRCh38
NC_000019.9:g.39055783_39055804delinsCGGGCGCGGAAGGCGCGGAGGA , CM000681.1:g.39055783_39055804delinsCGGGCGCGGAAGGCGCGGAGGA GRCh37
NC_000019.8:g.43747623_43747644delinsCGGGCGCGGAAGGCGCGGAGGA NCBI36
NG_008866.1:g.136444_136465delinsCGGGCGCGGAAGGCGCGGAGGA , LRG_766:g.136444_136465delinsCGGGCGCGGAAGGCGCGGAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1219_1240delinsCGGGCGCGGAAGGCGCGGAGGA
ENST00000689936.1:c.1201_1222delinsCGGGCGCGGAAGGCGCGGAGGA
ENST00000359596.8:c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA MANE Select ENSP00000352608.2:p.Ala4270=
ENST00000355481.8:c.12794_12815delinsCGGGCGCGGAAGGCGCGGAGGA ENSP00000347667.3:p.Ala4265=
ENST00000359596.7:c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA ENSP00000352608.2:p.Ala4270=
ENST00000360985.7:c.12791_12812delinsCGGGCGCGGAAGGCGCGGAGGA ENSP00000354254.4:p.Ala4264=
ENST00000594335.5:c.6178_6199delinsCGGGCGCGGAAGGCGCGGAGGA
NM_000540.2:c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA , LRG_766t1:c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA NP_000531.2:p.Ala4270=
NM_001042723.1:c.12794_12815delinsCGGGCGCGGAAGGCGCGGAGGA NP_001036188.1:p.Ala4265=
XM_006723317.1:c.12791_12812delinsCGGGCGCGGAAGGCGCGGAGGA XP_006723380.1:p.Ala4264=
XM_006723319.1:c.12776_12797delinsCGGGCGCGGAAGGCGCGGAGGA XP_006723382.1:p.Ala4259=
XM_011527204.1:c.12806_12827delinsCGGGCGCGGAAGGCGCGGAGGA XP_011525506.1:p.Ala4269=
XM_011527205.1:c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA XP_011525507.1:p.Ala4270=
XM_006723317.2:c.12791_12812delinsCGGGCGCGGAAGGCGCGGAGGA XP_006723380.1:p.Ala4264=
XM_006723319.2:c.12776_12797delinsCGGGCGCGGAAGGCGCGGAGGA XP_006723382.1:p.Ala4259=
XM_011527205.2:c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA XP_011525507.1:p.Ala4270=
NM_000540.3:c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA MANE Select NP_000531.2:p.Ala4270=
NM_001042723.2:c.12794_12815delinsCGGGCGCGGAAGGCGCGGAGGA NP_001036188.1:p.Ala4265=