Canonical Allele Identifier: CA2335084859
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565396_38565407delinsGCTGGGCCTGCT , CM000681.2:g.38565396_38565407delinsGCTGGGCCTGCT GRCh38
NC_000019.9:g.39056036_39056047delinsGCTGGGCCTGCT , CM000681.1:g.39056036_39056047delinsGCTGGGCCTGCT GRCh37
NC_000019.8:g.43747876_43747887delinsGCTGGGCCTGCT NCBI36
NG_008866.1:g.136697_136708delinsGCTGGGCCTGCT , LRG_766:g.136697_136708delinsGCTGGGCCTGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1472_1483delinsGCTGGGCCTGCT
ENST00000689936.1:c.1454_1465delinsGCTGGGCCTGCT
ENST00000359596.8:c.13062_13073delinsGCTGGGCCTGCT MANE Select ENSP00000352608.2:p.Ala4354=
ENST00000355481.8:c.13047_13058delinsGCTGGGCCTGCT ENSP00000347667.3:p.Ala4349=
ENST00000359596.7:c.13062_13073delinsGCTGGGCCTGCT ENSP00000352608.2:p.Ala4354=
ENST00000360985.7:c.13044_13055delinsGCTGGGCCTGCT ENSP00000354254.4:p.Ala4348=
NM_000540.2:c.13062_13073delinsGCTGGGCCTGCT , LRG_766t1:c.13062_13073delinsGCTGGGCCTGCT NP_000531.2:p.Ala4354=
NM_001042723.1:c.13047_13058delinsGCTGGGCCTGCT NP_001036188.1:p.Ala4349=
XM_006723317.1:c.13044_13055delinsGCTGGGCCTGCT XP_006723380.1:p.Ala4348=
XM_006723319.1:c.13029_13040delinsGCTGGGCCTGCT XP_006723382.1:p.Ala4343=
XM_011527204.1:c.13059_13070delinsGCTGGGCCTGCT XP_011525506.1:p.Ala4353=
XM_011527205.1:c.13062_13073delinsGCTGGGCCTGCT XP_011525507.1:p.Ala4354=
XM_006723317.2:c.13044_13055delinsGCTGGGCCTGCT XP_006723380.1:p.Ala4348=
XM_006723319.2:c.13029_13040delinsGCTGGGCCTGCT XP_006723382.1:p.Ala4343=
XM_011527205.2:c.13062_13073delinsGCTGGGCCTGCT XP_011525507.1:p.Ala4354=
NM_000540.3:c.13062_13073delinsGCTGGGCCTGCT MANE Select NP_000531.2:p.Ala4354=
NM_001042723.2:c.13047_13058delinsGCTGGGCCTGCT NP_001036188.1:p.Ala4349=