Canonical Allele Identifier: CA507245307
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1489987883
gnomAD v2: 19-39064061-CCTGTAAT-C
gnomAD v3: 19-38573421-CCTGTAAT-C
gnomAD v4: 19-38573421-CCTGTAAT-C
MyVariant Identifiers: chr19:g.39064062_39064068del (hg19) chr19:g.38573422_38573428del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573423_38573429del , CM000681.2:g.38573423_38573429del GRCh38
NC_000019.9:g.39064063_39064069del , CM000681.1:g.39064063_39064069del GRCh37
NC_000019.8:g.43755903_43755909del NCBI36
NG_008866.1:g.144724_144730del , LRG_766:g.144724_144730del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1065+116_1065+122del
ENST00000688602.1:c.2462+116_2462+122del
ENST00000689936.1:c.2434+116_2434+122del
ENST00000359596.8:c.14129+116_14129+122del MANE Select ENSP00000352608.2:n.14129+116_14129+122del
ENST00000355481.8:c.14114+116_14114+122del ENSP00000347667.3:n.14114+116_14114+122del
ENST00000359596.7:c.14129+116_14129+122del ENSP00000352608.2:n.14129+116_14129+122del
ENST00000360985.7:c.14111+116_14111+122del ENSP00000354254.4:n.14111+116_14111+122del
NM_000540.2:c.14129+116_14129+122del , LRG_766t1:c.14129+116_14129+122del NP_000531.2:n.14129+116_14129+122del
NM_001042723.1:c.14114+116_14114+122del NP_001036188.1:n.14114+116_14114+122del
XM_006723317.1:c.14111+116_14111+122del XP_006723380.1:n.14111+116_14111+122del
XM_006723319.1:c.14096+116_14096+122del XP_006723382.1:n.14096+116_14096+122del
XM_011527204.1:c.14126+116_14126+122del XP_011525506.1:n.14126+116_14126+122del
XM_011527205.1:c.14042+116_14042+122del XP_011525507.1:n.14042+116_14042+122del
XM_006723317.2:c.14111+116_14111+122del XP_006723380.1:n.14111+116_14111+122del
XM_006723319.2:c.14096+116_14096+122del XP_006723382.1:n.14096+116_14096+122del
XM_011527205.2:c.14042+116_14042+122del XP_011525507.1:n.14042+116_14042+122del
NM_000540.3:c.14129+116_14129+122del MANE Select NP_000531.2:n.14129+116_14129+122del
NM_001042723.2:c.14114+116_14114+122del NP_001036188.1:n.14114+116_14114+122del
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