Canonical Allele Identifier: CA2830782551

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572210_38572215del , CM000681.2:g.38572210_38572215del	GRCh38
NC_000019.9:g.39062850_39062855del , CM000681.1:g.39062850_39062855del	GRCh37
NC_000019.8:g.43754690_43754695del	NCBI36
NG_008866.1:g.143511_143516del , LRG_766:g.143511_143516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.874_879del
ENST00000688602.1:c.2271_2276del
ENST00000689936.1:c.2243_2248del
ENST00000359596.8:c.13938_13943del MANE Select	ENSP00000352608.2:p.Leu4647_Ser4648del
ENST00000355481.8:c.13923_13928del	ENSP00000347667.3:p.Leu4642_Ser4643del
ENST00000359596.7:c.13938_13943del	ENSP00000352608.2:p.Leu4647_Ser4648del
ENST00000360985.7:c.13920_13925del	ENSP00000354254.4:p.Leu4641_Ser4642del
ENST00000593677.1:c.398_403del
NM_000540.2:c.13938_13943del , LRG_766t1:c.13938_13943del	NP_000531.2:p.Leu4647_Ser4648del
NM_001042723.1:c.13923_13928del	NP_001036188.1:p.Leu4642_Ser4643del
XM_006723317.1:c.13920_13925del	XP_006723380.1:p.Leu4641_Ser4642del
XM_006723319.1:c.13905_13910del	XP_006723382.1:p.Leu4636_Ser4637del
XM_011527204.1:c.13935_13940del	XP_011525506.1:p.Leu4646_Ser4647del
XM_011527205.1:c.13851_13856del	XP_011525507.1:p.Leu4618_Ser4619del
XM_006723317.2:c.13920_13925del	XP_006723380.1:p.Leu4641_Ser4642del
XM_006723319.2:c.13905_13910del	XP_006723382.1:p.Leu4636_Ser4637del
XM_011527205.2:c.13851_13856del	XP_011525507.1:p.Leu4618_Ser4619del
NM_000540.3:c.13938_13943del MANE Select	NP_000531.2:p.Leu4647_Ser4648del
NM_001042723.2:c.13923_13928del	NP_001036188.1:p.Leu4642_Ser4643del