Canonical Allele Identifier: CA2335088380

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572085_38572097delinsGGCTCTGGTGGCA , CM000681.2:g.38572085_38572097delinsGGCTCTGGTGGCA	GRCh38
NC_000019.9:g.39062725_39062737delinsGGCTCTGGTGGCA , CM000681.1:g.39062725_39062737delinsGGCTCTGGTGGCA	GRCh37
NC_000019.8:g.43754565_43754577delinsGGCTCTGGTGGCA	NCBI36
NG_008866.1:g.143386_143398delinsGGCTCTGGTGGCA , LRG_766:g.143386_143398delinsGGCTCTGGTGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000593677.2:c.749_761delinsGGCTCTGGTGGCA
ENST00000688602.1:c.2146_2158delinsGGCTCTGGTGGCA
ENST00000689936.1:c.2118_2130delinsGGCTCTGGTGGCA
ENST00000359596.8:c.13813_13825delinsGGCTCTGGTGGCA MANE Select	ENSP00000352608.2:p.Gly4605=
ENST00000355481.8:c.13798_13810delinsGGCTCTGGTGGCA	ENSP00000347667.3:p.Gly4600=
ENST00000359596.7:c.13813_13825delinsGGCTCTGGTGGCA	ENSP00000352608.2:p.Gly4605=
ENST00000360985.7:c.13795_13807delinsGGCTCTGGTGGCA	ENSP00000354254.4:p.Gly4599=
ENST00000593677.1:c.273_285delinsGGCTCTGGTGGCA
NM_000540.2:c.13813_13825delinsGGCTCTGGTGGCA , LRG_766t1:c.13813_13825delinsGGCTCTGGTGGCA	NP_000531.2:p.Gly4605=
NM_001042723.1:c.13798_13810delinsGGCTCTGGTGGCA	NP_001036188.1:p.Gly4600=
XM_006723317.1:c.13795_13807delinsGGCTCTGGTGGCA	XP_006723380.1:p.Gly4599=
XM_006723319.1:c.13780_13792delinsGGCTCTGGTGGCA	XP_006723382.1:p.Gly4594=
XM_011527204.1:c.13810_13822delinsGGCTCTGGTGGCA	XP_011525506.1:p.Gly4604=
XM_011527205.1:c.13726_13738delinsGGCTCTGGTGGCA	XP_011525507.1:p.Gly4576=
XM_006723317.2:c.13795_13807delinsGGCTCTGGTGGCA	XP_006723380.1:p.Gly4599=
XM_006723319.2:c.13780_13792delinsGGCTCTGGTGGCA	XP_006723382.1:p.Gly4594=
XM_011527205.2:c.13726_13738delinsGGCTCTGGTGGCA	XP_011525507.1:p.Gly4576=
NM_000540.3:c.13813_13825delinsGGCTCTGGTGGCA MANE Select	NP_000531.2:p.Gly4605=
NM_001042723.2:c.13798_13810delinsGGCTCTGGTGGCA	NP_001036188.1:p.Gly4600=