Canonical Allele Identifier: CA2584910057

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572292-TGGGGCAAGGGCTTATTGGCTGGGTGGGGGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572299_38572329del , CM000681.2:g.38572299_38572329del	GRCh38
NC_000019.9:g.39062939_39062969del , CM000681.1:g.39062939_39062969del	GRCh37
NC_000019.8:g.43754779_43754809del	NCBI36
NG_008866.1:g.143600_143630del , LRG_766:g.143600_143630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.934+29_934+59del
ENST00000688602.1:c.2331+29_2331+59del
ENST00000689936.1:c.2303+29_2303+59del
ENST00000359596.8:c.13998+29_13998+59del MANE Select	ENSP00000352608.2:n.13998+29_13998+59del
ENST00000355481.8:c.13983+29_13983+59del	ENSP00000347667.3:n.13983+29_13983+59del
ENST00000359596.7:c.13998+29_13998+59del	ENSP00000352608.2:n.13998+29_13998+59del
ENST00000360985.7:c.13980+29_13980+59del	ENSP00000354254.4:n.13980+29_13980+59del
NM_000540.2:c.13998+29_13998+59del , LRG_766t1:c.13998+29_13998+59del	NP_000531.2:n.13998+29_13998+59del
NM_001042723.1:c.13983+29_13983+59del	NP_001036188.1:n.13983+29_13983+59del
XM_006723317.1:c.13980+29_13980+59del	XP_006723380.1:n.13980+29_13980+59del
XM_006723319.1:c.13965+29_13965+59del	XP_006723382.1:n.13965+29_13965+59del
XM_011527204.1:c.13995+29_13995+59del	XP_011525506.1:n.13995+29_13995+59del
XM_011527205.1:c.13911+29_13911+59del	XP_011525507.1:n.13911+29_13911+59del
XM_006723317.2:c.13980+29_13980+59del	XP_006723380.1:n.13980+29_13980+59del
XM_006723319.2:c.13965+29_13965+59del	XP_006723382.1:n.13965+29_13965+59del
XM_011527205.2:c.13911+29_13911+59del	XP_011525507.1:n.13911+29_13911+59del
NM_000540.3:c.13998+29_13998+59del MANE Select	NP_000531.2:n.13998+29_13998+59del
NM_001042723.2:c.13983+29_13983+59del	NP_001036188.1:n.13983+29_13983+59del