Canonical Allele Identifier: CA2335054502

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502751_38502793delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA , CM000681.2:g.38502751_38502793delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	GRCh38
NC_000019.9:g.38993391_38993433delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA , CM000681.1:g.38993391_38993433delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	GRCh37
NC_000019.8:g.43685231_43685273delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	NCBI36
NG_008866.1:g.74052_74094delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA , LRG_766:g.74052_74094delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	ENSP00000471601.2:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAG...
ENST00000359596.8:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA MANE Select	ENSP00000352608.2:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAG...
ENST00000355481.8:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	ENSP00000347667.3:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAG...
ENST00000359596.7:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	ENSP00000352608.2:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAG...
ENST00000360985.7:c.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	ENSP00000354254.4:n.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAG...
ENST00000594335.5:c.1287+24_1287+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
NM_000540.2:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA , LRG_766t1:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	NP_000531.2:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAG...
NM_001042723.1:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	NP_001036188.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XM_006723317.1:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	XP_006723380.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XM_006723319.1:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	XP_006723382.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XM_011527204.1:c.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	XP_011525506.1:n.7832+24_7832+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XM_011527205.1:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	XP_011525507.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XM_006723317.2:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	XP_006723380.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XM_006723319.2:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	XP_006723382.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XM_011527205.2:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	XP_011525507.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...
XR_001753735.1:n.7918+24_7918+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA
NM_000540.3:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA MANE Select	NP_000531.2:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAG...
NM_001042723.2:c.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	NP_001036188.1:n.7835+24_7835+66delinsTGGGGCAGGGGCAGGGGCAGGGG...