Canonical Allele Identifier: CA2814346624

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586186_38586187del , CM000681.2:g.38586186_38586187del	GRCh38
NC_000019.9:g.39076826_39076827del , CM000681.1:g.39076826_39076827del	GRCh37
NC_000019.8:g.43768666_43768667del	NCBI36
NG_008866.1:g.157487_157488del , LRG_766:g.157487_157488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1900_1901del
ENST00000688602.1:c.3297_3298del
ENST00000689936.1:c.3269_3270del
ENST00000692547.1:n.357_358del
ENST00000359596.8:c.14964_14965del MANE Select	ENSP00000352608.2:p.Asn4988LysfsTer13
ENST00000355481.8:c.14949_14950del	ENSP00000347667.3:p.Asn4983LysfsTer13
ENST00000359596.7:c.14964_14965del	ENSP00000352608.2:p.Asn4988LysfsTer13
ENST00000360985.7:c.14946_14947del	ENSP00000354254.4:p.Asn4982LysfsTer13
NM_000540.2:c.14964_14965del , LRG_766t1:c.14964_14965del	NP_000531.2:p.Asn4988LysfsTer13
NM_001042723.1:c.14949_14950del	NP_001036188.1:p.Asn4983LysfsTer13
XM_006723317.1:c.14946_14947del	XP_006723380.1:p.Asn4982LysfsTer13
XM_006723319.1:c.14931_14932del	XP_006723382.1:p.Asn4977LysfsTer13
XM_011527204.1:c.14961_14962del	XP_011525506.1:p.Asn4987LysfsTer13
XM_011527205.1:c.14877_14878del	XP_011525507.1:p.Asn4959LysfsTer13
XM_006723317.2:c.14946_14947del	XP_006723380.1:p.Asn4982LysfsTer13
XM_006723319.2:c.14931_14932del	XP_006723382.1:p.Asn4977LysfsTer13
XM_011527205.2:c.14877_14878del	XP_011525507.1:p.Asn4959LysfsTer13
NM_000540.3:c.14964_14965del MANE Select	NP_000531.2:p.Asn4988LysfsTer13
NM_001042723.2:c.14949_14950del	NP_001036188.1:p.Asn4983LysfsTer13