Canonical Allele Identifier: CA2814333052
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38446669_38446705del , CM000681.2:g.38446669_38446705del GRCh38
NC_000019.9:g.38937309_38937345del , CM000681.1:g.38937309_38937345del GRCh37
NC_000019.8:g.43629149_43629185del NCBI36
NG_008866.1:g.17970_18006del , LRG_766:g.17970_18006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.726-25_737del
ENST00000359596.8:c.726-25_737del
ENST00000355481.8:c.726-25_737del
ENST00000359596.7:c.726-25_737del
ENST00000360985.7:c.726-25_737del
NM_000540.2:c.726-25_737del , LRG_766t1:c.726-25_737del
NM_001042723.1:c.726-25_737del
XM_006723317.1:c.726-25_737del
XM_006723319.1:c.726-25_737del
XM_011527204.1:c.726-25_737del
XM_011527205.1:c.726-25_737del
XM_006723317.2:c.726-25_737del
XM_006723319.2:c.726-25_737del
XM_011527205.2:c.726-25_737del
XR_001753735.1:n.809-25_820del
NM_000540.3:c.726-25_737del
NM_001042723.2:c.726-25_737del