Canonical Allele Identifier: CA2335092275

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580037_38580040delinsACTT , CM000681.2:g.38580037_38580040delinsACTT	GRCh38
NC_000019.9:g.39070677_39070680delinsACTT , CM000681.1:g.39070677_39070680delinsACTT	GRCh37
NC_000019.8:g.43762517_43762520delinsACTT	NCBI36
NG_008866.1:g.151338_151341delinsACTT , LRG_766:g.151338_151341delinsACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1356_1359delinsACTT
ENST00000688602.1:c.2753_2756delinsACTT
ENST00000689936.1:c.2725_2728delinsACTT
ENST00000359596.8:c.14420_14423delinsACTT MANE Select	ENSP00000352608.2:p.Asn4807=
ENST00000355481.8:c.14405_14408delinsACTT	ENSP00000347667.3:p.Asn4802=
ENST00000359596.7:c.14420_14423delinsACTT	ENSP00000352608.2:p.Asn4807=
ENST00000360985.7:c.14402_14405delinsACTT	ENSP00000354254.4:p.Asn4801=
NM_000540.2:c.14420_14423delinsACTT , LRG_766t1:c.14420_14423delinsACTT	NP_000531.2:p.Asn4807=
NM_001042723.1:c.14405_14408delinsACTT	NP_001036188.1:p.Asn4802=
XM_006723317.1:c.14402_14405delinsACTT	XP_006723380.1:p.Asn4801=
XM_006723319.1:c.14387_14390delinsACTT	XP_006723382.1:p.Asn4796=
XM_011527204.1:c.14417_14420delinsACTT	XP_011525506.1:p.Asn4806=
XM_011527205.1:c.14333_14336delinsACTT	XP_011525507.1:p.Asn4778=
XM_006723317.2:c.14402_14405delinsACTT	XP_006723380.1:p.Asn4801=
XM_006723319.2:c.14387_14390delinsACTT	XP_006723382.1:p.Asn4796=
XM_011527205.2:c.14333_14336delinsACTT	XP_011525507.1:p.Asn4778=
NM_000540.3:c.14420_14423delinsACTT MANE Select	NP_000531.2:p.Asn4807=
NM_001042723.2:c.14405_14408delinsACTT	NP_001036188.1:p.Asn4802=