Canonical Allele Identifier: CA9415793

Gene: RYR1

Linked Data

• dbSNP Id: rs749357769
• ExAC: 19:38937406 CAGGT / C
• gnomAD v2: 19-38937406-CAGGT-C
• gnomAD v3: 19-38446766-CAGGT-C
• gnomAD v4: 19-38446766-CAGGT-C
• MyVariant Identifiers: chr19:g.38937407_38937410del (hg19) ; chr19:g.38446768_38446771del (hg38) ; chr19:g.38446767_38446770del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38446770_38446773del , CM000681.2:g.38446770_38446773del	GRCh38
NC_000019.9:g.38937410_38937413del , CM000681.1:g.38937410_38937413del	GRCh37
NC_000019.8:g.43629250_43629253del	NCBI36
NG_008866.1:g.18071_18074del , LRG_766:g.18071_18074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.800+2_800+5del
ENST00000359596.8:c.800+2_800+5del
ENST00000355481.8:c.800+2_800+5del
ENST00000359596.7:c.800+2_800+5del
ENST00000360985.7:c.800+2_800+5del
NM_000540.2:c.800+2_800+5del , LRG_766t1:c.800+2_800+5del
NM_001042723.1:c.800+2_800+5del
XM_006723317.1:c.800+2_800+5del
XM_006723319.1:c.800+2_800+5del
XM_011527204.1:c.800+2_800+5del
XM_011527205.1:c.800+2_800+5del
XM_006723317.2:c.800+2_800+5del
XM_006723319.2:c.800+2_800+5del
XM_011527205.2:c.800+2_800+5del
XR_001753735.1:n.883+2_883+5del
NM_000540.3:c.800+2_800+5del
NM_001042723.2:c.800+2_800+5del