Canonical Allele Identifier: CA2582145960

Gene: RYR1

Linked Data

• gnomAD v4: 19-38586061-CTCCACTCTGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586062_38586072del , CM000681.2:g.38586062_38586072del	GRCh38
NC_000019.9:g.39076702_39076712del , CM000681.1:g.39076702_39076712del	GRCh37
NC_000019.8:g.43768542_43768552del	NCBI36
NG_008866.1:g.157363_157373del , LRG_766:g.157363_157373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1805-29_1805-19del
ENST00000688602.1:c.3202-29_3202-19del
ENST00000689936.1:c.3174-29_3174-19del
ENST00000692547.1:n.262-29_262-19del
ENST00000359596.8:c.14869-29_14869-19del MANE Select	ENSP00000352608.2:n.14869-29_14869-19del
ENST00000355481.8:c.14854-29_14854-19del	ENSP00000347667.3:n.14854-29_14854-19del
ENST00000359596.7:c.14869-29_14869-19del	ENSP00000352608.2:n.14869-29_14869-19del
ENST00000360985.7:c.14851-29_14851-19del	ENSP00000354254.4:n.14851-29_14851-19del
NM_000540.2:c.14869-29_14869-19del , LRG_766t1:c.14869-29_14869-19del	NP_000531.2:n.14869-29_14869-19del
NM_001042723.1:c.14854-29_14854-19del	NP_001036188.1:n.14854-29_14854-19del
XM_006723317.1:c.14851-29_14851-19del	XP_006723380.1:n.14851-29_14851-19del
XM_006723319.1:c.14836-29_14836-19del	XP_006723382.1:n.14836-29_14836-19del
XM_011527204.1:c.14866-29_14866-19del	XP_011525506.1:n.14866-29_14866-19del
XM_011527205.1:c.14782-29_14782-19del	XP_011525507.1:n.14782-29_14782-19del
XM_006723317.2:c.14851-29_14851-19del	XP_006723380.1:n.14851-29_14851-19del
XM_006723319.2:c.14836-29_14836-19del	XP_006723382.1:n.14836-29_14836-19del
XM_011527205.2:c.14782-29_14782-19del	XP_011525507.1:n.14782-29_14782-19del
NM_000540.3:c.14869-29_14869-19del MANE Select	NP_000531.2:n.14869-29_14869-19del
NM_001042723.2:c.14854-29_14854-19del	NP_001036188.1:n.14854-29_14854-19del