Canonical Allele Identifier: CA995742375

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584350-CGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCT-C
• gnomAD v4: 19-38584350-CGGCCCTGACCCCTCTGCCTGTGCCCCACTATCCTGGCCCTAACCTCTCAGCCTGTACCCTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584377_38584581del , CM000681.2:g.38584377_38584581del	GRCh38
NC_000019.9:g.39075017_39075221del , CM000681.1:g.39075017_39075221del	GRCh37
NC_000019.8:g.43766857_43767061del	NCBI36
NG_008866.1:g.155678_155882del , LRG_766:g.155678_155882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-566_1583-362del
ENST00000688602.1:c.2980-566_2980-362del
ENST00000689936.1:c.2952-566_2952-362del
ENST00000359596.8:c.14647-566_14647-362del MANE Select	ENSP00000352608.2:n.14647-566_14647-362del
ENST00000355481.8:c.14632-566_14632-362del	ENSP00000347667.3:n.14632-566_14632-362del
ENST00000359596.7:c.14647-566_14647-362del	ENSP00000352608.2:n.14647-566_14647-362del
ENST00000360985.7:c.14629-566_14629-362del	ENSP00000354254.4:n.14629-566_14629-362del
NM_000540.2:c.14647-566_14647-362del , LRG_766t1:c.14647-566_14647-362del	NP_000531.2:n.14647-566_14647-362del
NM_001042723.1:c.14632-566_14632-362del	NP_001036188.1:n.14632-566_14632-362del
XM_006723317.1:c.14629-566_14629-362del	XP_006723380.1:n.14629-566_14629-362del
XM_006723319.1:c.14614-566_14614-362del	XP_006723382.1:n.14614-566_14614-362del
XM_011527204.1:c.14644-566_14644-362del	XP_011525506.1:n.14644-566_14644-362del
XM_011527205.1:c.14560-566_14560-362del	XP_011525507.1:n.14560-566_14560-362del
XM_006723317.2:c.14629-566_14629-362del	XP_006723380.1:n.14629-566_14629-362del
XM_006723319.2:c.14614-566_14614-362del	XP_006723382.1:n.14614-566_14614-362del
XM_011527205.2:c.14560-566_14560-362del	XP_011525507.1:n.14560-566_14560-362del
NM_000540.3:c.14647-566_14647-362del MANE Select	NP_000531.2:n.14647-566_14647-362del
NM_001042723.2:c.14632-566_14632-362del	NP_001036188.1:n.14632-566_14632-362del