Canonical Allele Identifier: CA2335074327
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543402_38543405delinsCATT , CM000681.2:g.38543402_38543405delinsCATT GRCh38
NC_000019.9:g.39034042_39034045delinsCATT , CM000681.1:g.39034042_39034045delinsCATT GRCh37
NC_000019.8:g.43725882_43725885delinsCATT NCBI36
NG_008866.1:g.114703_114706delinsCATT , LRG_766:g.114703_114706delinsCATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.155_158delinsCATT
ENST00000689936.1:c.137_140delinsCATT
ENST00000359596.8:c.11745_11748delinsCATT MANE Select ENSP00000352608.2:p.Ile3915=
ENST00000355481.8:c.11730_11733delinsCATT ENSP00000347667.3:p.Ile3910=
ENST00000359596.7:c.11745_11748delinsCATT ENSP00000352608.2:p.Ile3915=
ENST00000360985.7:c.11727_11730delinsCATT ENSP00000354254.4:p.Ile3909=
ENST00000593322.1:c.354_357delinsCATT
ENST00000594335.5:c.5114_5117delinsCATT
NM_000540.2:c.11745_11748delinsCATT , LRG_766t1:c.11745_11748delinsCATT NP_000531.2:p.Ile3915=
NM_001042723.1:c.11730_11733delinsCATT NP_001036188.1:p.Ile3910=
XM_006723317.1:c.11727_11730delinsCATT XP_006723380.1:p.Ile3909=
XM_006723319.1:c.11712_11715delinsCATT XP_006723382.1:p.Ile3904=
XM_011527204.1:c.11742_11745delinsCATT XP_011525506.1:p.Ile3914=
XM_011527205.1:c.11745_11748delinsCATT XP_011525507.1:p.Ile3915=
XM_006723317.2:c.11727_11730delinsCATT XP_006723380.1:p.Ile3909=
XM_006723319.2:c.11712_11715delinsCATT XP_006723382.1:p.Ile3904=
XM_011527205.2:c.11745_11748delinsCATT XP_011525507.1:p.Ile3915=
NM_000540.3:c.11745_11748delinsCATT MANE Select NP_000531.2:p.Ile3915=
NM_001042723.2:c.11730_11733delinsCATT NP_001036188.1:p.Ile3910=