Canonical Allele Identifier: CA2814346626

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586191_38586196del , CM000681.2:g.38586191_38586196del	GRCh38
NC_000019.9:g.39076831_39076836del , CM000681.1:g.39076831_39076836del	GRCh37
NC_000019.8:g.43768671_43768676del	NCBI36
NG_008866.1:g.157492_157497del , LRG_766:g.157492_157497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1905_1905+5del
ENST00000688602.1:c.3302_3302+5del
ENST00000689936.1:c.3274_3274+5del
ENST00000692547.1:n.362_362+5del
ENST00000359596.8:c.14969_14969+5del
ENST00000355481.8:c.14954_14954+5del
ENST00000359596.7:c.14969_14969+5del
ENST00000360985.7:c.14951_14951+5del
NM_000540.2:c.14969_14969+5del , LRG_766t1:c.14969_14969+5del
NM_001042723.1:c.14954_14954+5del
XM_006723317.1:c.14951_14951+5del
XM_006723319.1:c.14936_14936+5del
XM_011527204.1:c.14966_14966+5del
XM_011527205.1:c.14882_14882+5del
XM_006723317.2:c.14951_14951+5del
XM_006723319.2:c.14936_14936+5del
XM_011527205.2:c.14882_14882+5del
NM_000540.3:c.14969_14969+5del
NM_001042723.2:c.14954_14954+5del