Canonical Allele Identifier: CA2335054548

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502768_38502769delinsCA , CM000681.2:g.38502768_38502769delinsCA	GRCh38
NC_000019.9:g.38993408_38993409delinsCA , CM000681.1:g.38993408_38993409delinsCA	GRCh37
NC_000019.8:g.43685248_43685249delinsCA	NCBI36
NG_008866.1:g.74069_74070delinsCA , LRG_766:g.74069_74070delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+41_7835+42delinsCA	ENSP00000471601.2:n.7835+41_7835+42delinsCA
ENST00000359596.8:c.7835+41_7835+42delinsCA MANE Select	ENSP00000352608.2:n.7835+41_7835+42delinsCA
ENST00000355481.8:c.7835+41_7835+42delinsCA	ENSP00000347667.3:n.7835+41_7835+42delinsCA
ENST00000359596.7:c.7835+41_7835+42delinsCA	ENSP00000352608.2:n.7835+41_7835+42delinsCA
ENST00000360985.7:c.7832+41_7832+42delinsCA	ENSP00000354254.4:n.7832+41_7832+42delinsCA
ENST00000594335.5:c.1287+41_1287+42delinsCA
NM_000540.2:c.7835+41_7835+42delinsCA , LRG_766t1:c.7835+41_7835+42delinsCA	NP_000531.2:n.7835+41_7835+42delinsCA
NM_001042723.1:c.7835+41_7835+42delinsCA	NP_001036188.1:n.7835+41_7835+42delinsCA
XM_006723317.1:c.7835+41_7835+42delinsCA	XP_006723380.1:n.7835+41_7835+42delinsCA
XM_006723319.1:c.7835+41_7835+42delinsCA	XP_006723382.1:n.7835+41_7835+42delinsCA
XM_011527204.1:c.7832+41_7832+42delinsCA	XP_011525506.1:n.7832+41_7832+42delinsCA
XM_011527205.1:c.7835+41_7835+42delinsCA	XP_011525507.1:n.7835+41_7835+42delinsCA
XM_006723317.2:c.7835+41_7835+42delinsCA	XP_006723380.1:n.7835+41_7835+42delinsCA
XM_006723319.2:c.7835+41_7835+42delinsCA	XP_006723382.1:n.7835+41_7835+42delinsCA
XM_011527205.2:c.7835+41_7835+42delinsCA	XP_011525507.1:n.7835+41_7835+42delinsCA
XR_001753735.1:n.7918+41_7918+42delinsCA
NM_000540.3:c.7835+41_7835+42delinsCA MANE Select	NP_000531.2:n.7835+41_7835+42delinsCA
NM_001042723.2:c.7835+41_7835+42delinsCA	NP_001036188.1:n.7835+41_7835+42delinsCA