Canonical Allele Identifier: CA995742746

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584556-GGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCA-G
• gnomAD v4: 19-38584556-GGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584599_38584666del , CM000681.2:g.38584599_38584666del	GRCh38
NC_000019.9:g.39075239_39075306del , CM000681.1:g.39075239_39075306del	GRCh37
NC_000019.8:g.43767079_43767146del	NCBI36
NG_008866.1:g.155900_155967del , LRG_766:g.155900_155967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-344_1583-277del
ENST00000688602.1:c.2980-344_2980-277del
ENST00000689936.1:c.2952-344_2952-277del
ENST00000359596.8:c.14647-344_14647-277del MANE Select	ENSP00000352608.2:n.14647-344_14647-277del
ENST00000355481.8:c.14632-344_14632-277del	ENSP00000347667.3:n.14632-344_14632-277del
ENST00000359596.7:c.14647-344_14647-277del	ENSP00000352608.2:n.14647-344_14647-277del
ENST00000360985.7:c.14629-344_14629-277del	ENSP00000354254.4:n.14629-344_14629-277del
NM_000540.2:c.14647-344_14647-277del , LRG_766t1:c.14647-344_14647-277del	NP_000531.2:n.14647-344_14647-277del
NM_001042723.1:c.14632-344_14632-277del	NP_001036188.1:n.14632-344_14632-277del
XM_006723317.1:c.14629-344_14629-277del	XP_006723380.1:n.14629-344_14629-277del
XM_006723319.1:c.14614-344_14614-277del	XP_006723382.1:n.14614-344_14614-277del
XM_011527204.1:c.14644-344_14644-277del	XP_011525506.1:n.14644-344_14644-277del
XM_011527205.1:c.14560-344_14560-277del	XP_011525507.1:n.14560-344_14560-277del
XM_006723317.2:c.14629-344_14629-277del	XP_006723380.1:n.14629-344_14629-277del
XM_006723319.2:c.14614-344_14614-277del	XP_006723382.1:n.14614-344_14614-277del
XM_011527205.2:c.14560-344_14560-277del	XP_011525507.1:n.14560-344_14560-277del
NM_000540.3:c.14647-344_14647-277del MANE Select	NP_000531.2:n.14647-344_14647-277del
NM_001042723.2:c.14632-344_14632-277del	NP_001036188.1:n.14632-344_14632-277del