Canonical Allele Identifier: CA2584910793
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38578307-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578307_38578308insA , CM000681.2:g.38578307_38578308insA GRCh38
NC_000019.9:g.39068947_39068948insA , CM000681.1:g.39068947_39068948insA GRCh37
NC_000019.8:g.43760787_43760788insA NCBI36
NG_008866.1:g.149608_149609insA , LRG_766:g.149608_149609insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1300+103_1300+104insA
ENST00000688602.1:c.2697+103_2697+104insA
ENST00000689936.1:c.2669+103_2669+104insA
ENST00000359596.8:c.14364+103_14364+104insA MANE Select ENSP00000352608.2:n.14364+103_14364+104insA
ENST00000355481.8:c.14349+103_14349+104insA ENSP00000347667.3:n.14349+103_14349+104insA
ENST00000359596.7:c.14364+103_14364+104insA ENSP00000352608.2:n.14364+103_14364+104insA
ENST00000360985.7:c.14346+103_14346+104insA ENSP00000354254.4:n.14346+103_14346+104insA
NM_000540.2:c.14364+103_14364+104insA , LRG_766t1:c.14364+103_14364+104insA NP_000531.2:n.14364+103_14364+104insA
NM_001042723.1:c.14349+103_14349+104insA NP_001036188.1:n.14349+103_14349+104insA
XM_006723317.1:c.14346+103_14346+104insA XP_006723380.1:n.14346+103_14346+104insA
XM_006723319.1:c.14331+103_14331+104insA XP_006723382.1:n.14331+103_14331+104insA
XM_011527204.1:c.14361+103_14361+104insA XP_011525506.1:n.14361+103_14361+104insA
XM_011527205.1:c.14277+103_14277+104insA XP_011525507.1:n.14277+103_14277+104insA
XM_006723317.2:c.14346+103_14346+104insA XP_006723380.1:n.14346+103_14346+104insA
XM_006723319.2:c.14331+103_14331+104insA XP_006723382.1:n.14331+103_14331+104insA
XM_011527205.2:c.14277+103_14277+104insA XP_011525507.1:n.14277+103_14277+104insA
NM_000540.3:c.14364+103_14364+104insA MANE Select NP_000531.2:n.14364+103_14364+104insA
NM_001042723.2:c.14349+103_14349+104insA NP_001036188.1:n.14349+103_14349+104insA
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