Canonical Allele Identifier: CA2814345204
Gene: RYR1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38455518_38455519insGA , CM000681.2:g.38455518_38455519insGA GRCh38
NC_000019.9:g.38946158_38946159insGA , CM000681.1:g.38946158_38946159insGA GRCh37
NC_000019.8:g.43637998_43637999insGA NCBI36
NG_008866.1:g.26819_26820insGA , LRG_766:g.26819_26820insGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.1644_1645insGA ENSP00000471601.2:p.Lys549GlufsTer27
ENST00000359596.8:c.1644_1645insGA MANE Select ENSP00000352608.2:p.Lys549GlufsTer27
ENST00000355481.8:c.1644_1645insGA ENSP00000347667.3:p.Lys549GlufsTer27
ENST00000359596.7:c.1644_1645insGA ENSP00000352608.2:p.Lys549GlufsTer27
ENST00000360985.7:c.1644_1645insGA ENSP00000354254.4:p.Lys549GlufsTer27
NM_000540.2:c.1644_1645insGA , LRG_766t1:c.1644_1645insGA NP_000531.2:p.Lys549GlufsTer27
NM_001042723.1:c.1644_1645insGA NP_001036188.1:p.Lys549GlufsTer27
XM_006723317.1:c.1644_1645insGA XP_006723380.1:p.Lys549GlufsTer27
XM_006723319.1:c.1644_1645insGA XP_006723382.1:p.Lys549GlufsTer27
XM_011527204.1:c.1641_1642insGA XP_011525506.1:p.Lys548GlufsTer27
XM_011527205.1:c.1644_1645insGA XP_011525507.1:p.Lys549GlufsTer27
XM_006723317.2:c.1644_1645insGA XP_006723380.1:p.Lys549GlufsTer27
XM_006723319.2:c.1644_1645insGA XP_006723382.1:p.Lys549GlufsTer27
XM_011527205.2:c.1644_1645insGA XP_011525507.1:p.Lys549GlufsTer27
XR_001753735.1:n.1727_1728insGA
NM_000540.3:c.1644_1645insGA MANE Select NP_000531.2:p.Lys549GlufsTer27
NM_001042723.2:c.1644_1645insGA NP_001036188.1:p.Lys549GlufsTer27
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