Canonical Allele Identifier: CA2335095509
Community Standard Title: NM_000540.3(RYR1):c.14868+3_14868+4delinsAG
Gene: RYR1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586005_38586006delinsAG , CM000681.2:g.38586005_38586006delinsAG GRCh38
NC_000019.9:g.39076645_39076646delinsAG , CM000681.1:g.39076645_39076646delinsAG GRCh37
NC_000019.8:g.43768485_43768486delinsAG NCBI36
NG_008866.1:g.157306_157307delinsAG , LRG_766:g.157306_157307delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_000540.3:c.14868+3_14868+4delinsAG MANE Select NP_000531.2:n.14868+3_14868+4delinsAG
ENST00000359596.8:c.14868+3_14868+4delinsAG MANE Select ENSP00000352608.2:n.14868+3_14868+4delinsAG
NM_000540.2:c.14868+3_14868+4delinsAG , LRG_766t1:c.14868+3_14868+4delinsAG NP_000531.2:n.14868+3_14868+4delinsAG
NM_001042723.1:c.14853+3_14853+4delinsAG NP_001036188.1:n.14853+3_14853+4delinsAG
NM_001042723.2:c.14853+3_14853+4delinsAG NP_001036188.1:n.14853+3_14853+4delinsAG
ENST00000355481.8:c.14853+3_14853+4delinsAG ENSP00000347667.3:n.14853+3_14853+4delinsAG
ENST00000359596.7:c.14868+3_14868+4delinsAG ENSP00000352608.2:n.14868+3_14868+4delinsAG
ENST00000360985.7:c.14850+3_14850+4delinsAG ENSP00000354254.4:n.14850+3_14850+4delinsAG
ENST00000593677.2:c.1804+3_1804+4delinsAG
ENST00000688602.1:c.3201+3_3201+4delinsAG
ENST00000689936.1:c.3173+3_3173+4delinsAG
ENST00000692547.1:n.261+3_261+4delinsAG
XM_006723317.1:c.14850+3_14850+4delinsAG XP_006723380.1:n.14850+3_14850+4delinsAG
XM_006723317.2:c.14850+3_14850+4delinsAG XP_006723380.1:n.14850+3_14850+4delinsAG
XM_006723319.1:c.14835+3_14835+4delinsAG XP_006723382.1:n.14835+3_14835+4delinsAG
XM_006723319.2:c.14835+3_14835+4delinsAG XP_006723382.1:n.14835+3_14835+4delinsAG
XM_011527204.1:c.14865+3_14865+4delinsAG XP_011525506.1:n.14865+3_14865+4delinsAG
XM_011527205.1:c.14781+3_14781+4delinsAG XP_011525507.1:n.14781+3_14781+4delinsAG
XM_011527205.2:c.14781+3_14781+4delinsAG XP_011525507.1:n.14781+3_14781+4delinsAG
Search 100 bp 5'
Search 100 bp 3'