Canonical Allele Identifier: CA995716973
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v3: 19-38502498-GCGCCCTAGGC-G
gnomAD v4: 19-38502498-GCGCCCTAGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502500_38502509del , CM000681.2:g.38502500_38502509del GRCh38
NC_000019.9:g.38993140_38993149del , CM000681.1:g.38993140_38993149del GRCh37
NC_000019.8:g.43684980_43684989del NCBI36
NG_008866.1:g.73801_73810del , LRG_766:g.73801_73810del

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7615-7_7617del
ENST00000359596.8:c.7615-7_7617del
ENST00000355481.8:c.7615-7_7617del
ENST00000359596.7:c.7615-7_7617del
ENST00000360985.7:c.7612-7_7614del
ENST00000594335.5:c.1067-7_1069del
NM_000540.2:c.7615-7_7617del , LRG_766t1:c.7615-7_7617del
NM_001042723.1:c.7615-7_7617del
XM_006723317.1:c.7615-7_7617del
XM_006723319.1:c.7615-7_7617del
XM_011527204.1:c.7612-7_7614del
XM_011527205.1:c.7615-7_7617del
XM_006723317.2:c.7615-7_7617del
XM_006723319.2:c.7615-7_7617del
XM_011527205.2:c.7615-7_7617del
XR_001753735.1:n.7698-7_7700del
NM_000540.3:c.7615-7_7617del
NM_001042723.2:c.7615-7_7617del
Search 100 bp 5'
Search 100 bp 3'