Canonical Allele Identifier: CA2584894412

Gene: RYR1

Linked Data

• gnomAD v4: 19-38457771-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38457771_38457772insA , CM000681.2:g.38457771_38457772insA	GRCh38
NC_000019.9:g.38948411_38948412insA , CM000681.1:g.38948411_38948412insA	GRCh37
NC_000019.8:g.43640251_43640252insA	NCBI36
NG_008866.1:g.29072_29073insA , LRG_766:g.29072_29073insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1925+141_1925+142insA	ENSP00000471601.2:n.1925+141_1925+142insA
ENST00000359596.8:c.1925+141_1925+142insA MANE Select	ENSP00000352608.2:n.1925+141_1925+142insA
ENST00000355481.8:c.1925+141_1925+142insA	ENSP00000347667.3:n.1925+141_1925+142insA
ENST00000359596.7:c.1925+141_1925+142insA	ENSP00000352608.2:n.1925+141_1925+142insA
ENST00000360985.7:c.1925+141_1925+142insA	ENSP00000354254.4:n.1925+141_1925+142insA
NM_000540.2:c.1925+141_1925+142insA , LRG_766t1:c.1925+141_1925+142insA	NP_000531.2:n.1925+141_1925+142insA
NM_001042723.1:c.1925+141_1925+142insA	NP_001036188.1:n.1925+141_1925+142insA
XM_006723317.1:c.1925+141_1925+142insA	XP_006723380.1:n.1925+141_1925+142insA
XM_006723319.1:c.1925+141_1925+142insA	XP_006723382.1:n.1925+141_1925+142insA
XM_011527204.1:c.1922+141_1922+142insA	XP_011525506.1:n.1922+141_1922+142insA
XM_011527205.1:c.1925+141_1925+142insA	XP_011525507.1:n.1925+141_1925+142insA
XM_006723317.2:c.1925+141_1925+142insA	XP_006723380.1:n.1925+141_1925+142insA
XM_006723319.2:c.1925+141_1925+142insA	XP_006723382.1:n.1925+141_1925+142insA
XM_011527205.2:c.1925+141_1925+142insA	XP_011525507.1:n.1925+141_1925+142insA
XR_001753735.1:n.2008+141_2008+142insA
NM_000540.3:c.1925+141_1925+142insA MANE Select	NP_000531.2:n.1925+141_1925+142insA
NM_001042723.2:c.1925+141_1925+142insA	NP_001036188.1:n.1925+141_1925+142insA