Canonical Allele Identifier: CA2335054525

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502761_38502798delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC , CM000681.2:g.38502761_38502798delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	GRCh38
NC_000019.9:g.38993401_38993438delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC , CM000681.1:g.38993401_38993438delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	GRCh37
NC_000019.8:g.43685241_43685278delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	NCBI36
NG_008866.1:g.74062_74099delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC , LRG_766:g.74062_74099delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	ENSP00000471601.2:n.7835+34_7835+71delins...
ENST00000359596.8:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC MANE Select	ENSP00000352608.2:n.7835+34_7835+71delins...
ENST00000355481.8:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	ENSP00000347667.3:n.7835+34_7835+71delins...
ENST00000359596.7:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	ENSP00000352608.2:n.7835+34_7835+71delins...
ENST00000360985.7:c.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	ENSP00000354254.4:n.7832+34_7832+71delins...
ENST00000594335.5:c.1287+34_1287+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
NM_000540.2:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC , LRG_766t1:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	NP_000531.2:n.7835+34_7835+71delinsGCAGGG...
NM_001042723.1:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	NP_001036188.1:n.7835+34_7835+71delinsGCA...
XM_006723317.1:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	XP_006723380.1:n.7835+34_7835+71delinsGCA...
XM_006723319.1:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	XP_006723382.1:n.7835+34_7835+71delinsGCA...
XM_011527204.1:c.7832+34_7832+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	XP_011525506.1:n.7832+34_7832+71delinsGCA...
XM_011527205.1:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	XP_011525507.1:n.7835+34_7835+71delinsGCA...
XM_006723317.2:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	XP_006723380.1:n.7835+34_7835+71delinsGCA...
XM_006723319.2:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	XP_006723382.1:n.7835+34_7835+71delinsGCA...
XM_011527205.2:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	XP_011525507.1:n.7835+34_7835+71delinsGCA...
XR_001753735.1:n.7918+34_7918+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC
NM_000540.3:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC MANE Select	NP_000531.2:n.7835+34_7835+71delinsGCAGGG...
NM_001042723.2:c.7835+34_7835+71delinsGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGC	NP_001036188.1:n.7835+34_7835+71delinsGCA...