Canonical Allele Identifier: CA308107300
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs979863271
MyVariant Identifiers: chr19:g.38989823_38989824insG (hg19) chr19:g.38499183_38499184insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499185dup , CM000681.2:g.38499185dup GRCh38
NC_000019.9:g.38989825dup , CM000681.1:g.38989825dup GRCh37
NC_000019.8:g.43681665dup NCBI36
NG_008866.1:g.70486dup , LRG_766:g.70486dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6969dup ENSP00000471601.2:p.Asn2324GlufsTer?
ENST00000359596.8:c.6969dup MANE Select ENSP00000352608.2:p.Asn2324GlufsTer?
ENST00000355481.8:c.6969dup ENSP00000347667.3:p.Asn2324GlufsTer?
ENST00000359596.7:c.6969dup ENSP00000352608.2:p.Asn2324GlufsTer?
ENST00000360985.7:c.6966dup ENSP00000354254.4:p.Asn2323GlufsTer?
ENST00000594335.5:c.421dup
NM_000540.2:c.6969dup , LRG_766t1:c.6969dup NP_000531.2:p.Asn2324GlufsTer?
NM_001042723.1:c.6969dup NP_001036188.1:p.Asn2324GlufsTer?
XM_006723317.1:c.6969dup XP_006723380.1:p.Asn2324GlufsTer?
XM_006723319.1:c.6969dup XP_006723382.1:p.Asn2324GlufsTer?
XM_011527204.1:c.6966dup XP_011525506.1:p.Asn2323GlufsTer?
XM_011527205.1:c.6969dup XP_011525507.1:p.Asn2324GlufsTer?
XM_006723317.2:c.6969dup XP_006723380.1:p.Asn2324GlufsTer?
XM_006723319.2:c.6969dup XP_006723382.1:p.Asn2324GlufsTer?
XM_011527205.2:c.6969dup XP_011525507.1:p.Asn2324GlufsTer?
XR_001753735.1:n.7052dup
NM_000540.3:c.6969dup MANE Select NP_000531.2:p.Asn2324GlufsTer?
NM_001042723.2:c.6969dup NP_001036188.1:p.Asn2324GlufsTer?
Search 100 bp 5'
Search 100 bp 3'