Canonical Allele Identifier: CA995742818

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584669-CCT-C
• gnomAD v4: 19-38584669-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584672_38584673del , CM000681.2:g.38584672_38584673del	GRCh38
NC_000019.9:g.39075312_39075313del , CM000681.1:g.39075312_39075313del	GRCh37
NC_000019.8:g.43767152_43767153del	NCBI36
NG_008866.1:g.155973_155974del , LRG_766:g.155973_155974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-271_1583-270del
ENST00000688602.1:c.2980-271_2980-270del
ENST00000689936.1:c.2952-271_2952-270del
ENST00000359596.8:c.14647-271_14647-270del MANE Select	ENSP00000352608.2:n.14647-271_14647-270del
ENST00000355481.8:c.14632-271_14632-270del	ENSP00000347667.3:n.14632-271_14632-270del
ENST00000359596.7:c.14647-271_14647-270del	ENSP00000352608.2:n.14647-271_14647-270del
ENST00000360985.7:c.14629-271_14629-270del	ENSP00000354254.4:n.14629-271_14629-270del
NM_000540.2:c.14647-271_14647-270del , LRG_766t1:c.14647-271_14647-270del	NP_000531.2:n.14647-271_14647-270del
NM_001042723.1:c.14632-271_14632-270del	NP_001036188.1:n.14632-271_14632-270del
XM_006723317.1:c.14629-271_14629-270del	XP_006723380.1:n.14629-271_14629-270del
XM_006723319.1:c.14614-271_14614-270del	XP_006723382.1:n.14614-271_14614-270del
XM_011527204.1:c.14644-271_14644-270del	XP_011525506.1:n.14644-271_14644-270del
XM_011527205.1:c.14560-271_14560-270del	XP_011525507.1:n.14560-271_14560-270del
XM_006723317.2:c.14629-271_14629-270del	XP_006723380.1:n.14629-271_14629-270del
XM_006723319.2:c.14614-271_14614-270del	XP_006723382.1:n.14614-271_14614-270del
XM_011527205.2:c.14560-271_14560-270del	XP_011525507.1:n.14560-271_14560-270del
NM_000540.3:c.14647-271_14647-270del MANE Select	NP_000531.2:n.14647-271_14647-270del
NM_001042723.2:c.14632-271_14632-270del	NP_001036188.1:n.14632-271_14632-270del