Canonical Allele Identifier: CA995742822

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584671-TCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCC-T
• gnomAD v4: 19-38584671-TCTGCCTGTGCCCCCCATCCTGGCCCTGACCCCTCTGCCTGCGCCCCACACCCAACCTGGCCCTCACCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584677_38584746del , CM000681.2:g.38584677_38584746del	GRCh38
NC_000019.9:g.39075317_39075386del , CM000681.1:g.39075317_39075386del	GRCh37
NC_000019.8:g.43767157_43767226del	NCBI36
NG_008866.1:g.155978_156047del , LRG_766:g.155978_156047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-266_1583-197del
ENST00000688602.1:c.2980-266_2980-197del
ENST00000689936.1:c.2952-266_2952-197del
ENST00000359596.8:c.14647-266_14647-197del MANE Select	ENSP00000352608.2:n.14647-266_14647-197del
ENST00000355481.8:c.14632-266_14632-197del	ENSP00000347667.3:n.14632-266_14632-197del
ENST00000359596.7:c.14647-266_14647-197del	ENSP00000352608.2:n.14647-266_14647-197del
ENST00000360985.7:c.14629-266_14629-197del	ENSP00000354254.4:n.14629-266_14629-197del
NM_000540.2:c.14647-266_14647-197del , LRG_766t1:c.14647-266_14647-197del	NP_000531.2:n.14647-266_14647-197del
NM_001042723.1:c.14632-266_14632-197del	NP_001036188.1:n.14632-266_14632-197del
XM_006723317.1:c.14629-266_14629-197del	XP_006723380.1:n.14629-266_14629-197del
XM_006723319.1:c.14614-266_14614-197del	XP_006723382.1:n.14614-266_14614-197del
XM_011527204.1:c.14644-266_14644-197del	XP_011525506.1:n.14644-266_14644-197del
XM_011527205.1:c.14560-266_14560-197del	XP_011525507.1:n.14560-266_14560-197del
XM_006723317.2:c.14629-266_14629-197del	XP_006723380.1:n.14629-266_14629-197del
XM_006723319.2:c.14614-266_14614-197del	XP_006723382.1:n.14614-266_14614-197del
XM_011527205.2:c.14560-266_14560-197del	XP_011525507.1:n.14560-266_14560-197del
NM_000540.3:c.14647-266_14647-197del MANE Select	NP_000531.2:n.14647-266_14647-197del
NM_001042723.2:c.14632-266_14632-197del	NP_001036188.1:n.14632-266_14632-197del