Canonical Allele Identifier: CA2584910618
Gene: RYR1 HGNC NCBI

Linked Data

gnomAD v4: 19-38577915-CAGGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577916_38577919del , CM000681.2:g.38577916_38577919del GRCh38
NC_000019.9:g.39068556_39068559del , CM000681.1:g.39068556_39068559del GRCh37
NC_000019.8:g.43760396_43760399del NCBI36
NG_008866.1:g.149217_149220del , LRG_766:g.149217_149220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1109-2_1110del
ENST00000688602.1:c.2506-2_2507del
ENST00000689936.1:c.2478-2_2479del
ENST00000359596.8:c.14173-2_14174del
ENST00000355481.8:c.14158-2_14159del
ENST00000359596.7:c.14173-2_14174del
ENST00000360985.7:c.14155-2_14156del
NM_000540.2:c.14173-2_14174del , LRG_766t1:c.14173-2_14174del
NM_001042723.1:c.14158-2_14159del
XM_006723317.1:c.14155-2_14156del
XM_006723319.1:c.14140-2_14141del
XM_011527204.1:c.14170-2_14171del
XM_011527205.1:c.14086-2_14087del
XM_006723317.2:c.14155-2_14156del
XM_006723319.2:c.14140-2_14141del
XM_011527205.2:c.14086-2_14087del
NM_000540.3:c.14173-2_14174del
NM_001042723.2:c.14158-2_14159del
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