Canonical Allele Identifier: CA2584910870

Gene: RYR1

Linked Data

• gnomAD v4: 19-38579852-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579853_38579854del , CM000681.2:g.38579853_38579854del	GRCh38
NC_000019.9:g.39070493_39070494del , CM000681.1:g.39070493_39070494del	GRCh37
NC_000019.8:g.43762333_43762334del	NCBI36
NG_008866.1:g.151154_151155del , LRG_766:g.151154_151155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1301-129_1301-128del
ENST00000688602.1:c.2698-129_2698-128del
ENST00000689936.1:c.2670-129_2670-128del
ENST00000359596.8:c.14365-129_14365-128del MANE Select	ENSP00000352608.2:n.14365-129_14365-128del
ENST00000355481.8:c.14350-129_14350-128del	ENSP00000347667.3:n.14350-129_14350-128del
ENST00000359596.7:c.14365-129_14365-128del	ENSP00000352608.2:n.14365-129_14365-128del
ENST00000360985.7:c.14347-129_14347-128del	ENSP00000354254.4:n.14347-129_14347-128del
NM_000540.2:c.14365-129_14365-128del , LRG_766t1:c.14365-129_14365-128del	NP_000531.2:n.14365-129_14365-128del
NM_001042723.1:c.14350-129_14350-128del	NP_001036188.1:n.14350-129_14350-128del
XM_006723317.1:c.14347-129_14347-128del	XP_006723380.1:n.14347-129_14347-128del
XM_006723319.1:c.14332-129_14332-128del	XP_006723382.1:n.14332-129_14332-128del
XM_011527204.1:c.14362-129_14362-128del	XP_011525506.1:n.14362-129_14362-128del
XM_011527205.1:c.14278-129_14278-128del	XP_011525507.1:n.14278-129_14278-128del
XM_006723317.2:c.14347-129_14347-128del	XP_006723380.1:n.14347-129_14347-128del
XM_006723319.2:c.14332-129_14332-128del	XP_006723382.1:n.14332-129_14332-128del
XM_011527205.2:c.14278-129_14278-128del	XP_011525507.1:n.14278-129_14278-128del
NM_000540.3:c.14365-129_14365-128del MANE Select	NP_000531.2:n.14365-129_14365-128del
NM_001042723.2:c.14350-129_14350-128del	NP_001036188.1:n.14350-129_14350-128del