Canonical Allele Identifier: CA2572700764

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38517566_38517567insTTTTTAATGATA , CM000681.2:g.38517566_38517567insTTTTTAATGATA	GRCh38
NC_000019.9:g.39008206_39008207insTTTTTAATGATA , CM000681.1:g.39008206_39008207insTTTTTAATGATA	GRCh37
NC_000019.8:g.43700046_43700047insTTTTTAATGATA	NCBI36
NG_008866.1:g.88867_88868insTTTTTAATGATA , LRG_766:g.88867_88868insTTTTTAATGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.9832_9833insTTTTTAATGATA	ENSP00000471601.2:n.9832_9833insTTTTTAATGATA
ENST00000359596.8:c.9893_9894insTTTTTAATGATA MANE Select	ENSP00000352608.2:p.Ala3299PhefsTer2
ENST00000355481.8:c.9893_9894insTTTTTAATGATA	ENSP00000347667.3:p.Ala3299PhefsTer2
ENST00000359596.7:c.9893_9894insTTTTTAATGATA	ENSP00000352608.2:p.Ala3299PhefsTer2
ENST00000360985.7:c.9890_9891insTTTTTAATGATA	ENSP00000354254.4:p.Ala3298PhefsTer2
ENST00000594335.5:c.3295_3296insTTTTTAATGATA
ENST00000599547.5:c.700_701insTTTTTAATGATA
NM_000540.2:c.9893_9894insTTTTTAATGATA , LRG_766t1:c.9893_9894insTTTTTAATGATA	NP_000531.2:p.Ala3299PhefsTer2
NM_001042723.1:c.9893_9894insTTTTTAATGATA	NP_001036188.1:p.Ala3299PhefsTer2
XM_006723317.1:c.9893_9894insTTTTTAATGATA	XP_006723380.1:p.Ala3299PhefsTer2
XM_006723319.1:c.9893_9894insTTTTTAATGATA	XP_006723382.1:p.Ala3299PhefsTer2
XM_011527204.1:c.9890_9891insTTTTTAATGATA	XP_011525506.1:p.Ala3298PhefsTer2
XM_011527205.1:c.9893_9894insTTTTTAATGATA	XP_011525507.1:p.Ala3299PhefsTer2
XM_006723317.2:c.9893_9894insTTTTTAATGATA	XP_006723380.1:p.Ala3299PhefsTer2
XM_006723319.2:c.9893_9894insTTTTTAATGATA	XP_006723382.1:p.Ala3299PhefsTer2
XM_011527205.2:c.9893_9894insTTTTTAATGATA	XP_011525507.1:p.Ala3299PhefsTer2
NM_000540.3:c.9893_9894insTTTTTAATGATA MANE Select	NP_000531.2:p.Ala3299PhefsTer2
NM_001042723.2:c.9893_9894insTTTTTAATGATA	NP_001036188.1:p.Ala3299PhefsTer2