Canonical Allele Identifier: CA995742634

Gene: RYR1

Linked Data

• dbSNP Id: rs1974367756
• gnomAD v3: 19-38584476-ACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG-A
• gnomAD v4: 19-38584476-ACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584485_38584688del , CM000681.2:g.38584485_38584688del	GRCh38
NC_000019.9:g.39075125_39075328del , CM000681.1:g.39075125_39075328del	GRCh37
NC_000019.8:g.43766965_43767168del	NCBI36
NG_008866.1:g.155786_155989del , LRG_766:g.155786_155989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-458_1583-255del
ENST00000688602.1:c.2980-458_2980-255del
ENST00000689936.1:c.2952-458_2952-255del
ENST00000359596.8:c.14647-458_14647-255del MANE Select	ENSP00000352608.2:n.14647-458_14647-255del
ENST00000355481.8:c.14632-458_14632-255del	ENSP00000347667.3:n.14632-458_14632-255del
ENST00000359596.7:c.14647-458_14647-255del	ENSP00000352608.2:n.14647-458_14647-255del
ENST00000360985.7:c.14629-458_14629-255del	ENSP00000354254.4:n.14629-458_14629-255del
NM_000540.2:c.14647-458_14647-255del , LRG_766t1:c.14647-458_14647-255del	NP_000531.2:n.14647-458_14647-255del
NM_001042723.1:c.14632-458_14632-255del	NP_001036188.1:n.14632-458_14632-255del
XM_006723317.1:c.14629-458_14629-255del	XP_006723380.1:n.14629-458_14629-255del
XM_006723319.1:c.14614-458_14614-255del	XP_006723382.1:n.14614-458_14614-255del
XM_011527204.1:c.14644-458_14644-255del	XP_011525506.1:n.14644-458_14644-255del
XM_011527205.1:c.14560-458_14560-255del	XP_011525507.1:n.14560-458_14560-255del
XM_006723317.2:c.14629-458_14629-255del	XP_006723380.1:n.14629-458_14629-255del
XM_006723319.2:c.14614-458_14614-255del	XP_006723382.1:n.14614-458_14614-255del
XM_011527205.2:c.14560-458_14560-255del	XP_011525507.1:n.14560-458_14560-255del
NM_000540.3:c.14647-458_14647-255del MANE Select	NP_000531.2:n.14647-458_14647-255del
NM_001042723.2:c.14632-458_14632-255del	NP_001036188.1:n.14632-458_14632-255del