Canonical Allele Identifier: CA995742676

Gene: RYR1

Linked Data

• gnomAD v3: 19-38584488-AGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTG-A
• gnomAD v4: 19-38584488-AGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCATCCTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584508_38584711del , CM000681.2:g.38584508_38584711del	GRCh38
NC_000019.9:g.39075148_39075351del , CM000681.1:g.39075148_39075351del	GRCh37
NC_000019.8:g.43766988_43767191del	NCBI36
NG_008866.1:g.155809_156012del , LRG_766:g.155809_156012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-435_1583-232del
ENST00000688602.1:c.2980-435_2980-232del
ENST00000689936.1:c.2952-435_2952-232del
ENST00000359596.8:c.14647-435_14647-232del MANE Select	ENSP00000352608.2:n.14647-435_14647-232del
ENST00000355481.8:c.14632-435_14632-232del	ENSP00000347667.3:n.14632-435_14632-232del
ENST00000359596.7:c.14647-435_14647-232del	ENSP00000352608.2:n.14647-435_14647-232del
ENST00000360985.7:c.14629-435_14629-232del	ENSP00000354254.4:n.14629-435_14629-232del
NM_000540.2:c.14647-435_14647-232del , LRG_766t1:c.14647-435_14647-232del	NP_000531.2:n.14647-435_14647-232del
NM_001042723.1:c.14632-435_14632-232del	NP_001036188.1:n.14632-435_14632-232del
XM_006723317.1:c.14629-435_14629-232del	XP_006723380.1:n.14629-435_14629-232del
XM_006723319.1:c.14614-435_14614-232del	XP_006723382.1:n.14614-435_14614-232del
XM_011527204.1:c.14644-435_14644-232del	XP_011525506.1:n.14644-435_14644-232del
XM_011527205.1:c.14560-435_14560-232del	XP_011525507.1:n.14560-435_14560-232del
XM_006723317.2:c.14629-435_14629-232del	XP_006723380.1:n.14629-435_14629-232del
XM_006723319.2:c.14614-435_14614-232del	XP_006723382.1:n.14614-435_14614-232del
XM_011527205.2:c.14560-435_14560-232del	XP_011525507.1:n.14560-435_14560-232del
NM_000540.3:c.14647-435_14647-232del MANE Select	NP_000531.2:n.14647-435_14647-232del
NM_001042723.2:c.14632-435_14632-232del	NP_001036188.1:n.14632-435_14632-232del