Canonical Allele Identifier: CA995742847

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584702-CCT-C
• gnomAD v4: 19-38584702-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584705_38584706del , CM000681.2:g.38584705_38584706del	GRCh38
NC_000019.9:g.39075345_39075346del , CM000681.1:g.39075345_39075346del	GRCh37
NC_000019.8:g.43767185_43767186del	NCBI36
NG_008866.1:g.156006_156007del , LRG_766:g.156006_156007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-238_1583-237del
ENST00000688602.1:c.2980-238_2980-237del
ENST00000689936.1:c.2952-238_2952-237del
ENST00000359596.8:c.14647-238_14647-237del MANE Select	ENSP00000352608.2:n.14647-238_14647-237del
ENST00000355481.8:c.14632-238_14632-237del	ENSP00000347667.3:n.14632-238_14632-237del
ENST00000359596.7:c.14647-238_14647-237del	ENSP00000352608.2:n.14647-238_14647-237del
ENST00000360985.7:c.14629-238_14629-237del	ENSP00000354254.4:n.14629-238_14629-237del
NM_000540.2:c.14647-238_14647-237del , LRG_766t1:c.14647-238_14647-237del	NP_000531.2:n.14647-238_14647-237del
NM_001042723.1:c.14632-238_14632-237del	NP_001036188.1:n.14632-238_14632-237del
XM_006723317.1:c.14629-238_14629-237del	XP_006723380.1:n.14629-238_14629-237del
XM_006723319.1:c.14614-238_14614-237del	XP_006723382.1:n.14614-238_14614-237del
XM_011527204.1:c.14644-238_14644-237del	XP_011525506.1:n.14644-238_14644-237del
XM_011527205.1:c.14560-238_14560-237del	XP_011525507.1:n.14560-238_14560-237del
XM_006723317.2:c.14629-238_14629-237del	XP_006723380.1:n.14629-238_14629-237del
XM_006723319.2:c.14614-238_14614-237del	XP_006723382.1:n.14614-238_14614-237del
XM_011527205.2:c.14560-238_14560-237del	XP_011525507.1:n.14560-238_14560-237del
NM_000540.3:c.14647-238_14647-237del MANE Select	NP_000531.2:n.14647-238_14647-237del
NM_001042723.2:c.14632-238_14632-237del	NP_001036188.1:n.14632-238_14632-237del