Canonical Allele Identifier: CA632878240

Gene: RYR1

Linked Data

• dbSNP Id: rs1344053360
• gnomAD v2: 19-39076818-CTGGCCAATTACA-C
• gnomAD v3: 19-38586178-CTGGCCAATTACA-C
• gnomAD v4: 19-38586178-CTGGCCAATTACA-C
• MyVariant Identifiers: chr19:g.39076819_39076830del (hg19) ; chr19:g.38586179_38586190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586181_38586192del , CM000681.2:g.38586181_38586192del	GRCh38
NC_000019.9:g.39076821_39076832del , CM000681.1:g.39076821_39076832del	GRCh37
NC_000019.8:g.43768661_43768672del	NCBI36
NG_008866.1:g.157482_157493del , LRG_766:g.157482_157493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1895_1905+1del
ENST00000688602.1:c.3292_3302+1del
ENST00000689936.1:c.3264_3274+1del
ENST00000692547.1:n.352_362+1del
ENST00000359596.8:c.14959_14969+1del
ENST00000355481.8:c.14944_14954+1del
ENST00000359596.7:c.14959_14969+1del
ENST00000360985.7:c.14941_14951+1del
NM_000540.2:c.14959_14969+1del , LRG_766t1:c.14959_14969+1del
NM_001042723.1:c.14944_14954+1del
XM_006723317.1:c.14941_14951+1del
XM_006723319.1:c.14926_14936+1del
XM_011527204.1:c.14956_14966+1del
XM_011527205.1:c.14872_14882+1del
XM_006723317.2:c.14941_14951+1del
XM_006723319.2:c.14926_14936+1del
XM_011527205.2:c.14872_14882+1del
NM_000540.3:c.14959_14969+1del
NM_001042723.2:c.14944_14954+1del