Canonical Allele Identifier: CA633066318

Gene: RYR1

Linked Data

• dbSNP Id: rs1303003329
• gnomAD v2: 19-38993450-GAGGAGC-G
• gnomAD v3: 19-38502810-GAGGAGC-G
• gnomAD v4: 19-38502810-GAGGAGC-G
• MyVariant Identifiers: chr19:g.38993451_38993456del (hg19) ; chr19:g.38502811_38502816del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502814_38502819del , CM000681.2:g.38502814_38502819del	GRCh38
NC_000019.9:g.38993454_38993459del , CM000681.1:g.38993454_38993459del	GRCh37
NC_000019.8:g.43685294_43685299del	NCBI36
NG_008866.1:g.74115_74120del , LRG_766:g.74115_74120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7836-66_7836-61del	ENSP00000471601.2:n.7836-66_7836-61del
ENST00000359596.8:c.7836-66_7836-61del MANE Select	ENSP00000352608.2:n.7836-66_7836-61del
ENST00000355481.8:c.7836-66_7836-61del	ENSP00000347667.3:n.7836-66_7836-61del
ENST00000359596.7:c.7836-66_7836-61del	ENSP00000352608.2:n.7836-66_7836-61del
ENST00000360985.7:c.7833-66_7833-61del	ENSP00000354254.4:n.7833-66_7833-61del
ENST00000594335.5:c.1288-66_1288-61del
NM_000540.2:c.7836-66_7836-61del , LRG_766t1:c.7836-66_7836-61del	NP_000531.2:n.7836-66_7836-61del
NM_001042723.1:c.7836-66_7836-61del	NP_001036188.1:n.7836-66_7836-61del
XM_006723317.1:c.7836-66_7836-61del	XP_006723380.1:n.7836-66_7836-61del
XM_006723319.1:c.7836-66_7836-61del	XP_006723382.1:n.7836-66_7836-61del
XM_011527204.1:c.7833-66_7833-61del	XP_011525506.1:n.7833-66_7833-61del
XM_011527205.1:c.7836-66_7836-61del	XP_011525507.1:n.7836-66_7836-61del
XM_006723317.2:c.7836-66_7836-61del	XP_006723380.1:n.7836-66_7836-61del
XM_006723319.2:c.7836-66_7836-61del	XP_006723382.1:n.7836-66_7836-61del
XM_011527205.2:c.7836-66_7836-61del	XP_011525507.1:n.7836-66_7836-61del
XR_001753735.1:n.7919-66_7919-61del
NM_000540.3:c.7836-66_7836-61del MANE Select	NP_000531.2:n.7836-66_7836-61del
NM_001042723.2:c.7836-66_7836-61del	NP_001036188.1:n.7836-66_7836-61del