Canonical Allele Identifier: CA2959503821

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565443del , CM000681.2:g.38565443del	GRCh38
NC_000019.9:g.39056083del , CM000681.1:g.39056083del	GRCh37
NC_000019.8:g.43747923del	NCBI36
NG_008866.1:g.136744del , LRG_766:g.136744del

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.13109del MANE Select	NP_000531.2:p.Gly4370AlafsTer5
ENST00000359596.8:c.13109del MANE Select	ENSP00000352608.2:p.Gly4370AlafsTer5
NM_000540.2:c.13109del , LRG_766t1:c.13109del	NP_000531.2:p.Gly4370AlafsTer5
NM_001042723.1:c.13094del	NP_001036188.1:p.Gly4365AlafsTer5
NM_001042723.2:c.13094del	NP_001036188.1:p.Gly4365AlafsTer5
ENST00000355481.8:c.13094del	ENSP00000347667.3:p.Gly4365AlafsTer5
ENST00000359596.7:c.13109del	ENSP00000352608.2:p.Gly4370AlafsTer5
ENST00000360985.7:c.13091del	ENSP00000354254.4:p.Gly4364AlafsTer5
ENST00000593677.2:c.45del
ENST00000688602.1:c.1519del
ENST00000689936.1:c.1501del
XM_006723317.1:c.13091del	XP_006723380.1:p.Gly4364AlafsTer5
XM_006723317.2:c.13091del	XP_006723380.1:p.Gly4364AlafsTer5
XM_006723319.1:c.13076del	XP_006723382.1:p.Gly4359AlafsTer5
XM_006723319.2:c.13076del	XP_006723382.1:p.Gly4359AlafsTer5
XM_011527204.1:c.13106del	XP_011525506.1:p.Gly4369AlafsTer5
XM_011527205.1:c.13109del	XP_011525507.1:p.Gly4370AlafsTer5
XM_011527205.2:c.13109del	XP_011525507.1:p.Gly4370AlafsTer5