Canonical Allele Identifier: CA2584901160

Gene: RYR1

Linked Data

• gnomAD v4: 19-38503020-TTTGCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38503023_38503028del , CM000681.2:g.38503023_38503028del	GRCh38
NC_000019.9:g.38993663_38993668del , CM000681.1:g.38993663_38993668del	GRCh37
NC_000019.8:g.43685503_43685508del	NCBI36
NG_008866.1:g.74324_74329del , LRG_766:g.74324_74329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7926+53_7926+58del	ENSP00000471601.2:n.7926+53_7926+58del
ENST00000359596.8:c.7926+53_7926+58del MANE Select	ENSP00000352608.2:n.7926+53_7926+58del
ENST00000355481.8:c.7926+53_7926+58del	ENSP00000347667.3:n.7926+53_7926+58del
ENST00000359596.7:c.7926+53_7926+58del	ENSP00000352608.2:n.7926+53_7926+58del
ENST00000360985.7:c.7923+53_7923+58del	ENSP00000354254.4:n.7923+53_7923+58del
ENST00000594335.5:c.1378+53_1378+58del
NM_000540.2:c.7926+53_7926+58del , LRG_766t1:c.7926+53_7926+58del	NP_000531.2:n.7926+53_7926+58del
NM_001042723.1:c.7926+53_7926+58del	NP_001036188.1:n.7926+53_7926+58del
XM_006723317.1:c.7926+53_7926+58del	XP_006723380.1:n.7926+53_7926+58del
XM_006723319.1:c.7926+53_7926+58del	XP_006723382.1:n.7926+53_7926+58del
XM_011527204.1:c.7923+53_7923+58del	XP_011525506.1:n.7923+53_7923+58del
XM_011527205.1:c.7926+53_7926+58del	XP_011525507.1:n.7926+53_7926+58del
XM_006723317.2:c.7926+53_7926+58del	XP_006723380.1:n.7926+53_7926+58del
XM_006723319.2:c.7926+53_7926+58del	XP_006723382.1:n.7926+53_7926+58del
XM_011527205.2:c.7926+53_7926+58del	XP_011525507.1:n.7926+53_7926+58del
XR_001753735.1:n.8009+53_8009+58del
NM_000540.3:c.7926+53_7926+58del MANE Select	NP_000531.2:n.7926+53_7926+58del
NM_001042723.2:c.7926+53_7926+58del	NP_001036188.1:n.7926+53_7926+58del