Canonical Allele Identifier: CA995742447

Gene: RYR1

Linked Data

• dbSNP Id: rs1974360608
• gnomAD v3: 19-38584412-CATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTT-C
• gnomAD v4: 19-38584412-CATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38584426_38584598del , CM000681.2:g.38584426_38584598del	GRCh38
NC_000019.9:g.39075066_39075238del , CM000681.1:g.39075066_39075238del	GRCh37
NC_000019.8:g.43766906_43767078del	NCBI36
NG_008866.1:g.155727_155899del , LRG_766:g.155727_155899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1583-517_1583-345del
ENST00000688602.1:c.2980-517_2980-345del
ENST00000689936.1:c.2952-517_2952-345del
ENST00000359596.8:c.14647-517_14647-345del MANE Select	ENSP00000352608.2:n.14647-517_14647-345del
ENST00000355481.8:c.14632-517_14632-345del	ENSP00000347667.3:n.14632-517_14632-345del
ENST00000359596.7:c.14647-517_14647-345del	ENSP00000352608.2:n.14647-517_14647-345del
ENST00000360985.7:c.14629-517_14629-345del	ENSP00000354254.4:n.14629-517_14629-345del
NM_000540.2:c.14647-517_14647-345del , LRG_766t1:c.14647-517_14647-345del	NP_000531.2:n.14647-517_14647-345del
NM_001042723.1:c.14632-517_14632-345del	NP_001036188.1:n.14632-517_14632-345del
XM_006723317.1:c.14629-517_14629-345del	XP_006723380.1:n.14629-517_14629-345del
XM_006723319.1:c.14614-517_14614-345del	XP_006723382.1:n.14614-517_14614-345del
XM_011527204.1:c.14644-517_14644-345del	XP_011525506.1:n.14644-517_14644-345del
XM_011527205.1:c.14560-517_14560-345del	XP_011525507.1:n.14560-517_14560-345del
XM_006723317.2:c.14629-517_14629-345del	XP_006723380.1:n.14629-517_14629-345del
XM_006723319.2:c.14614-517_14614-345del	XP_006723382.1:n.14614-517_14614-345del
XM_011527205.2:c.14560-517_14560-345del	XP_011525507.1:n.14560-517_14560-345del
NM_000540.3:c.14647-517_14647-345del MANE Select	NP_000531.2:n.14647-517_14647-345del
NM_001042723.2:c.14632-517_14632-345del	NP_001036188.1:n.14632-517_14632-345del