Canonical Allele Identifier: CA2959503834

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565452del , CM000681.2:g.38565452del	GRCh38
NC_000019.9:g.39056092del , CM000681.1:g.39056092del	GRCh37
NC_000019.8:g.43747932del	NCBI36
NG_008866.1:g.136753del , LRG_766:g.136753del

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13118del MANE Select	NP_000531.2:p.Lys4373ArgfsTer2
ENST00000359596.8:c.13118del MANE Select	ENSP00000352608.2:p.Lys4373ArgfsTer2
NM_000540.2:c.13118del , LRG_766t1:c.13118del	NP_000531.2:p.Lys4373ArgfsTer2
NM_001042723.1:c.13103del	NP_001036188.1:p.Lys4368ArgfsTer2
NM_001042723.2:c.13103del	NP_001036188.1:p.Lys4368ArgfsTer2
ENST00000355481.8:c.13103del	ENSP00000347667.3:p.Lys4368ArgfsTer2
ENST00000359596.7:c.13118del	ENSP00000352608.2:p.Lys4373ArgfsTer2
ENST00000360985.7:c.13100del	ENSP00000354254.4:p.Lys4367ArgfsTer2
ENST00000593677.2:c.54del
ENST00000688602.1:c.1528del
ENST00000689936.1:c.1510del
XM_006723317.1:c.13100del	XP_006723380.1:p.Lys4367ArgfsTer2
XM_006723317.2:c.13100del	XP_006723380.1:p.Lys4367ArgfsTer2
XM_006723319.1:c.13085del	XP_006723382.1:p.Lys4362ArgfsTer2
XM_006723319.2:c.13085del	XP_006723382.1:p.Lys4362ArgfsTer2
XM_011527204.1:c.13115del	XP_011525506.1:p.Lys4372ArgfsTer2
XM_011527205.1:c.13118del	XP_011525507.1:p.Lys4373ArgfsTer2
XM_011527205.2:c.13118del	XP_011525507.1:p.Lys4373ArgfsTer2