Canonical Allele Identifier: CA405669783
Gene: RYR1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.38500595del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500595del , CM000681.2:g.38500595del GRCh38
NC_000019.9:g.38991235del , CM000681.1:g.38991235del GRCh37
NC_000019.8:g.43683075del NCBI36
NG_008866.1:g.71896del , LRG_766:g.71896del

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.7324-11del ENSP00000471601.2:n.7324-11del
ENST00000359596.8:c.7324-11del MANE Select ENSP00000352608.2:n.7324-11del
ENST00000355481.8:c.7324-11del ENSP00000347667.3:n.7324-11del
ENST00000359596.7:c.7324-11del ENSP00000352608.2:n.7324-11del
ENST00000360985.7:c.7321-11del ENSP00000354254.4:n.7321-11del
ENST00000594335.5:c.776-11del
NM_000540.2:c.7324-11del , LRG_766t1:c.7324-11del NP_000531.2:n.7324-11del
NM_001042723.1:c.7324-11del NP_001036188.1:n.7324-11del
XM_006723317.1:c.7324-11del XP_006723380.1:n.7324-11del
XM_006723319.1:c.7324-11del XP_006723382.1:n.7324-11del
XM_011527204.1:c.7321-11del XP_011525506.1:n.7321-11del
XM_011527205.1:c.7324-11del XP_011525507.1:n.7324-11del
XM_006723317.2:c.7324-11del XP_006723380.1:n.7324-11del
XM_006723319.2:c.7324-11del XP_006723382.1:n.7324-11del
XM_011527205.2:c.7324-11del XP_011525507.1:n.7324-11del
XR_001753735.1:n.7407-11del
NM_000540.3:c.7324-11del MANE Select NP_000531.2:n.7324-11del
NM_001042723.2:c.7324-11del NP_001036188.1:n.7324-11del