Canonical Allele Identifier: CA2335054501

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502751_38502817delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA , CM000681.2:g.38502751_38502817delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	GRCh38
NC_000019.9:g.38993391_38993457delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA , CM000681.1:g.38993391_38993457delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	GRCh37
NC_000019.8:g.43685231_43685297delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	NCBI36
NG_008866.1:g.74052_74118delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA , LRG_766:g.74052_74118delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	ENSP00000471601.2:n.7835+24_7836-63delins...
ENST00000359596.8:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA MANE Select	ENSP00000352608.2:n.7835+24_7836-63delins...
ENST00000355481.8:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	ENSP00000347667.3:n.7835+24_7836-63delins...
ENST00000359596.7:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	ENSP00000352608.2:n.7835+24_7836-63delins...
ENST00000360985.7:c.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	ENSP00000354254.4:n.7832+24_7833-63delins...
ENST00000594335.5:c.1287+24_1288-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA
NM_000540.2:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA , LRG_766t1:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	NP_000531.2:n.7835+24_7836-63delinsTGGGGC...
NM_001042723.1:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	NP_001036188.1:n.7835+24_7836-63delinsTGG...
XM_006723317.1:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	XP_006723380.1:n.7835+24_7836-63delinsTGG...
XM_006723319.1:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	XP_006723382.1:n.7835+24_7836-63delinsTGG...
XM_011527204.1:c.7832+24_7833-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	XP_011525506.1:n.7832+24_7833-63delinsTGG...
XM_011527205.1:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	XP_011525507.1:n.7835+24_7836-63delinsTGG...
XM_006723317.2:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	XP_006723380.1:n.7835+24_7836-63delinsTGG...
XM_006723319.2:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	XP_006723382.1:n.7835+24_7836-63delinsTGG...
XM_011527205.2:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	XP_011525507.1:n.7835+24_7836-63delinsTGG...
XR_001753735.1:n.7918+24_7919-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA
NM_000540.3:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA MANE Select	NP_000531.2:n.7835+24_7836-63delinsTGGGGC...
NM_001042723.2:c.7835+24_7836-63delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCA	NP_001036188.1:n.7835+24_7836-63delinsTGG...