Canonical Allele Identifier: CA2584911144

Gene: RYR1

Linked Data

• gnomAD v4: 19-38580327-G-GGCCACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580327_38580328insGCCACCC , CM000681.2:g.38580327_38580328insGCCACCC	GRCh38
NC_000019.9:g.39070967_39070968insGCCACCC , CM000681.1:g.39070967_39070968insGCCACCC	GRCh37
NC_000019.8:g.43762807_43762808insGCCACCC	NCBI36
NG_008866.1:g.151628_151629insGCCACCC , LRG_766:g.151628_151629insGCCACCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.1448-43_1448-42insGCCACCC
ENST00000688602.1:c.2845-43_2845-42insGCCACCC
ENST00000689936.1:c.2817-43_2817-42insGCCACCC
ENST00000359596.8:c.14512-43_14512-42insGCCACCC MANE Select	ENSP00000352608.2:n.14512-43_14512-42insGCCACCC
ENST00000355481.8:c.14497-43_14497-42insGCCACCC	ENSP00000347667.3:n.14497-43_14497-42insGCCACCC
ENST00000359596.7:c.14512-43_14512-42insGCCACCC	ENSP00000352608.2:n.14512-43_14512-42insGCCACCC
ENST00000360985.7:c.14494-43_14494-42insGCCACCC	ENSP00000354254.4:n.14494-43_14494-42insGCCACCC
NM_000540.2:c.14512-43_14512-42insGCCACCC , LRG_766t1:c.14512-43_14512-42insGCCACCC	NP_000531.2:n.14512-43_14512-42insGCCACCC
NM_001042723.1:c.14497-43_14497-42insGCCACCC	NP_001036188.1:n.14497-43_14497-42insGCCACCC
XM_006723317.1:c.14494-43_14494-42insGCCACCC	XP_006723380.1:n.14494-43_14494-42insGCCACCC
XM_006723319.1:c.14479-43_14479-42insGCCACCC	XP_006723382.1:n.14479-43_14479-42insGCCACCC
XM_011527204.1:c.14509-43_14509-42insGCCACCC	XP_011525506.1:n.14509-43_14509-42insGCCACCC
XM_011527205.1:c.14425-43_14425-42insGCCACCC	XP_011525507.1:n.14425-43_14425-42insGCCACCC
XM_006723317.2:c.14494-43_14494-42insGCCACCC	XP_006723380.1:n.14494-43_14494-42insGCCACCC
XM_006723319.2:c.14479-43_14479-42insGCCACCC	XP_006723382.1:n.14479-43_14479-42insGCCACCC
XM_011527205.2:c.14425-43_14425-42insGCCACCC	XP_011525507.1:n.14425-43_14425-42insGCCACCC
NM_000540.3:c.14512-43_14512-42insGCCACCC MANE Select	NP_000531.2:n.14512-43_14512-42insGCCACCC
NM_001042723.2:c.14497-43_14497-42insGCCACCC	NP_001036188.1:n.14497-43_14497-42insGCCACCC