Canonical Allele Identifier: CA2584900834

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502798-C-CCGGGGGAGGGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502798_38502799insCGGGGGAGGGGGAGGGGG , CM000681.2:g.38502798_38502799insCGGGGGAGGGGGAGGGGG	GRCh38
NC_000019.9:g.38993438_38993439insCGGGGGAGGGGGAGGGGG , CM000681.1:g.38993438_38993439insCGGGGGAGGGGGAGGGGG	GRCh37
NC_000019.8:g.43685278_43685279insCGGGGGAGGGGGAGGGGG	NCBI36
NG_008866.1:g.74099_74100insCGGGGGAGGGGGAGGGGG , LRG_766:g.74099_74100insCGGGGGAGGGGGAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	ENSP00000471601.2:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
ENST00000359596.8:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG MANE Select	ENSP00000352608.2:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
ENST00000355481.8:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	ENSP00000347667.3:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
ENST00000359596.7:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	ENSP00000352608.2:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
ENST00000360985.7:c.7832+71_7832+72insCGGGGGAGGGGGAGGGGG	ENSP00000354254.4:n.7832+71_7832+72insCGGGGGAGGGGGAGGGGG
ENST00000594335.5:c.1287+71_1287+72insCGGGGGAGGGGGAGGGGG
NM_000540.2:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG , LRG_766t1:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	NP_000531.2:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
NM_001042723.1:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	NP_001036188.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
XM_006723317.1:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	XP_006723380.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
XM_006723319.1:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	XP_006723382.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
XM_011527204.1:c.7832+71_7832+72insCGGGGGAGGGGGAGGGGG	XP_011525506.1:n.7832+71_7832+72insCGGGGGAGGGGGAGGGGG
XM_011527205.1:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	XP_011525507.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
XM_006723317.2:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	XP_006723380.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
XM_006723319.2:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	XP_006723382.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
XM_011527205.2:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	XP_011525507.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
XR_001753735.1:n.7918+71_7918+72insCGGGGGAGGGGGAGGGGG
NM_000540.3:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG MANE Select	NP_000531.2:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG
NM_001042723.2:c.7835+71_7835+72insCGGGGGAGGGGGAGGGGG	NP_001036188.1:n.7835+71_7835+72insCGGGGGAGGGGGAGGGGG