Canonical Allele Identifier: CA995742739

Gene: RYR1

Linked Data

• dbSNP Id: rs1974374196
• gnomAD v3: 19-38584550-TATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCC-T
• gnomAD v4: 19-38584550-TATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584555_38584622del , CM000681.2:g.38584555_38584622del	GRCh38
NC_000019.9:g.39075195_39075262del , CM000681.1:g.39075195_39075262del	GRCh37
NC_000019.8:g.43767035_43767102del	NCBI36
NG_008866.1:g.155856_155923del , LRG_766:g.155856_155923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-388_1583-321del
ENST00000688602.1:c.2980-388_2980-321del
ENST00000689936.1:c.2952-388_2952-321del
ENST00000359596.8:c.14647-388_14647-321del MANE Select	ENSP00000352608.2:n.14647-388_14647-321del
ENST00000355481.8:c.14632-388_14632-321del	ENSP00000347667.3:n.14632-388_14632-321del
ENST00000359596.7:c.14647-388_14647-321del	ENSP00000352608.2:n.14647-388_14647-321del
ENST00000360985.7:c.14629-388_14629-321del	ENSP00000354254.4:n.14629-388_14629-321del
NM_000540.2:c.14647-388_14647-321del , LRG_766t1:c.14647-388_14647-321del	NP_000531.2:n.14647-388_14647-321del
NM_001042723.1:c.14632-388_14632-321del	NP_001036188.1:n.14632-388_14632-321del
XM_006723317.1:c.14629-388_14629-321del	XP_006723380.1:n.14629-388_14629-321del
XM_006723319.1:c.14614-388_14614-321del	XP_006723382.1:n.14614-388_14614-321del
XM_011527204.1:c.14644-388_14644-321del	XP_011525506.1:n.14644-388_14644-321del
XM_011527205.1:c.14560-388_14560-321del	XP_011525507.1:n.14560-388_14560-321del
XM_006723317.2:c.14629-388_14629-321del	XP_006723380.1:n.14629-388_14629-321del
XM_006723319.2:c.14614-388_14614-321del	XP_006723382.1:n.14614-388_14614-321del
XM_011527205.2:c.14560-388_14560-321del	XP_011525507.1:n.14560-388_14560-321del
NM_000540.3:c.14647-388_14647-321del MANE Select	NP_000531.2:n.14647-388_14647-321del
NM_001042723.2:c.14632-388_14632-321del	NP_001036188.1:n.14632-388_14632-321del