Canonical Allele Identifier: CA2584900789

Gene: RYR1

Linked Data

• gnomAD v4: 19-38502788-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502788_38502789insCA , CM000681.2:g.38502788_38502789insCA	GRCh38
NC_000019.9:g.38993428_38993429insCA , CM000681.1:g.38993428_38993429insCA	GRCh37
NC_000019.8:g.43685268_43685269insCA	NCBI36
NG_008866.1:g.74089_74090insCA , LRG_766:g.74089_74090insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7835+61_7835+62insCA	ENSP00000471601.2:n.7835+61_7835+62insCA
ENST00000359596.8:c.7835+61_7835+62insCA MANE Select	ENSP00000352608.2:n.7835+61_7835+62insCA
ENST00000355481.8:c.7835+61_7835+62insCA	ENSP00000347667.3:n.7835+61_7835+62insCA
ENST00000359596.7:c.7835+61_7835+62insCA	ENSP00000352608.2:n.7835+61_7835+62insCA
ENST00000360985.7:c.7832+61_7832+62insCA	ENSP00000354254.4:n.7832+61_7832+62insCA
ENST00000594335.5:c.1287+61_1287+62insCA
NM_000540.2:c.7835+61_7835+62insCA , LRG_766t1:c.7835+61_7835+62insCA	NP_000531.2:n.7835+61_7835+62insCA
NM_001042723.1:c.7835+61_7835+62insCA	NP_001036188.1:n.7835+61_7835+62insCA
XM_006723317.1:c.7835+61_7835+62insCA	XP_006723380.1:n.7835+61_7835+62insCA
XM_006723319.1:c.7835+61_7835+62insCA	XP_006723382.1:n.7835+61_7835+62insCA
XM_011527204.1:c.7832+61_7832+62insCA	XP_011525506.1:n.7832+61_7832+62insCA
XM_011527205.1:c.7835+61_7835+62insCA	XP_011525507.1:n.7835+61_7835+62insCA
XM_006723317.2:c.7835+61_7835+62insCA	XP_006723380.1:n.7835+61_7835+62insCA
XM_006723319.2:c.7835+61_7835+62insCA	XP_006723382.1:n.7835+61_7835+62insCA
XM_011527205.2:c.7835+61_7835+62insCA	XP_011525507.1:n.7835+61_7835+62insCA
XR_001753735.1:n.7918+61_7918+62insCA
NM_000540.3:c.7835+61_7835+62insCA MANE Select	NP_000531.2:n.7835+61_7835+62insCA
NM_001042723.2:c.7835+61_7835+62insCA	NP_001036188.1:n.7835+61_7835+62insCA