Canonical Allele Identifier: CA2335088470

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572266_38572267delinsTC , CM000681.2:g.38572266_38572267delinsTC	GRCh38
NC_000019.9:g.39062906_39062907delinsTC , CM000681.1:g.39062906_39062907delinsTC	GRCh37
NC_000019.8:g.43754746_43754747delinsTC	NCBI36
NG_008866.1:g.143567_143568delinsTC , LRG_766:g.143567_143568delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.930_931delinsTC
ENST00000688602.1:c.2327_2328delinsTC
ENST00000689936.1:c.2299_2300delinsTC
ENST00000359596.8:c.13994_13995delinsTC MANE Select	ENSP00000352608.2:p.Leu4665=
ENST00000355481.8:c.13979_13980delinsTC	ENSP00000347667.3:p.Leu4660=
ENST00000359596.7:c.13994_13995delinsTC	ENSP00000352608.2:p.Leu4665=
ENST00000360985.7:c.13976_13977delinsTC	ENSP00000354254.4:p.Leu4659=
NM_000540.2:c.13994_13995delinsTC , LRG_766t1:c.13994_13995delinsTC	NP_000531.2:p.Leu4665=
NM_001042723.1:c.13979_13980delinsTC	NP_001036188.1:p.Leu4660=
XM_006723317.1:c.13976_13977delinsTC	XP_006723380.1:p.Leu4659=
XM_006723319.1:c.13961_13962delinsTC	XP_006723382.1:p.Leu4654=
XM_011527204.1:c.13991_13992delinsTC	XP_011525506.1:p.Leu4664=
XM_011527205.1:c.13907_13908delinsTC	XP_011525507.1:p.Leu4636=
XM_006723317.2:c.13976_13977delinsTC	XP_006723380.1:p.Leu4659=
XM_006723319.2:c.13961_13962delinsTC	XP_006723382.1:p.Leu4654=
XM_011527205.2:c.13907_13908delinsTC	XP_011525507.1:p.Leu4636=
NM_000540.3:c.13994_13995delinsTC MANE Select	NP_000531.2:p.Leu4665=
NM_001042723.2:c.13979_13980delinsTC	NP_001036188.1:p.Leu4660=