Canonical Allele Identifier: CA995742775

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584631-ACC-A
• gnomAD v4: 19-38584631-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584634_38584635del , CM000681.2:g.38584634_38584635del	GRCh38
NC_000019.9:g.39075274_39075275del , CM000681.1:g.39075274_39075275del	GRCh37
NC_000019.8:g.43767114_43767115del	NCBI36
NG_008866.1:g.155935_155936del , LRG_766:g.155935_155936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-309_1583-308del
ENST00000688602.1:c.2980-309_2980-308del
ENST00000689936.1:c.2952-309_2952-308del
ENST00000359596.8:c.14647-309_14647-308del MANE Select	ENSP00000352608.2:n.14647-309_14647-308del
ENST00000355481.8:c.14632-309_14632-308del	ENSP00000347667.3:n.14632-309_14632-308del
ENST00000359596.7:c.14647-309_14647-308del	ENSP00000352608.2:n.14647-309_14647-308del
ENST00000360985.7:c.14629-309_14629-308del	ENSP00000354254.4:n.14629-309_14629-308del
NM_000540.2:c.14647-309_14647-308del , LRG_766t1:c.14647-309_14647-308del	NP_000531.2:n.14647-309_14647-308del
NM_001042723.1:c.14632-309_14632-308del	NP_001036188.1:n.14632-309_14632-308del
XM_006723317.1:c.14629-309_14629-308del	XP_006723380.1:n.14629-309_14629-308del
XM_006723319.1:c.14614-309_14614-308del	XP_006723382.1:n.14614-309_14614-308del
XM_011527204.1:c.14644-309_14644-308del	XP_011525506.1:n.14644-309_14644-308del
XM_011527205.1:c.14560-309_14560-308del	XP_011525507.1:n.14560-309_14560-308del
XM_006723317.2:c.14629-309_14629-308del	XP_006723380.1:n.14629-309_14629-308del
XM_006723319.2:c.14614-309_14614-308del	XP_006723382.1:n.14614-309_14614-308del
XM_011527205.2:c.14560-309_14560-308del	XP_011525507.1:n.14560-309_14560-308del
NM_000540.3:c.14647-309_14647-308del MANE Select	NP_000531.2:n.14647-309_14647-308del
NM_001042723.2:c.14632-309_14632-308del	NP_001036188.1:n.14632-309_14632-308del