Canonical Allele Identifier: CA2584898026

Gene: RYR1

Linked Data

• gnomAD v4: 19-38486191-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38486192_38486193del , CM000681.2:g.38486192_38486193del	GRCh38
NC_000019.9:g.38976832_38976833del , CM000681.1:g.38976832_38976833del	GRCh37
NC_000019.8:g.43668672_43668673del	NCBI36
NG_008866.1:g.57493_57494del , LRG_766:g.57493_57494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.5537_5538del	ENSP00000471601.2:p.Ser1846TyrfsTer11
ENST00000359596.8:c.5537_5538del MANE Select	ENSP00000352608.2:p.Ser1846TyrfsTer11
ENST00000355481.8:c.5537_5538del	ENSP00000347667.3:p.Ser1846TyrfsTer11
ENST00000359596.7:c.5537_5538del	ENSP00000352608.2:p.Ser1846TyrfsTer11
ENST00000360985.7:c.5534_5535del	ENSP00000354254.4:p.Ser1845TyrfsTer11
NM_000540.2:c.5537_5538del , LRG_766t1:c.5537_5538del	NP_000531.2:p.Ser1846TyrfsTer11
NM_001042723.1:c.5537_5538del	NP_001036188.1:p.Ser1846TyrfsTer11
XM_006723317.1:c.5537_5538del	XP_006723380.1:p.Ser1846TyrfsTer11
XM_006723319.1:c.5537_5538del	XP_006723382.1:p.Ser1846TyrfsTer11
XM_011527204.1:c.5534_5535del	XP_011525506.1:p.Ser1845TyrfsTer11
XM_011527205.1:c.5537_5538del	XP_011525507.1:p.Ser1846TyrfsTer11
XM_006723317.2:c.5537_5538del	XP_006723380.1:p.Ser1846TyrfsTer11
XM_006723319.2:c.5537_5538del	XP_006723382.1:p.Ser1846TyrfsTer11
XM_011527205.2:c.5537_5538del	XP_011525507.1:p.Ser1846TyrfsTer11
XR_001753735.1:n.5620_5621del
NM_000540.3:c.5537_5538del MANE Select	NP_000531.2:p.Ser1846TyrfsTer11
NM_001042723.2:c.5537_5538del	NP_001036188.1:p.Ser1846TyrfsTer11