Canonical Allele Identifier: CA2573144612
Gene: RMRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1347746
ClinVar RCV Id: RCV002033188
dbSNP Id: rs2131807830

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35657802_35657803insTGGTCTCGGGAACAAAAAGCAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC , CM000671.2:g.35657802_35657803insTGGTCTCGGGAACAAAAAGCAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC GRCh38
NC_000009.11:g.35657799_35657800insTGGTCTCGGGAACAAAAAGCAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC , CM000671.1:g.35657799_35657800insTGGTCTCGGGAACAAAAAGCAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC GRCh37
NC_000009.10:g.35647799_35647800insTGGTCTCGGGAACAAAAAGCAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC NCBI36
NG_017041.1:g.5267_5268insCTTTTTGTTCCCGAGACCAGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTG , LRG_163:g.5267_5268insCTTTTTGTTCCCGAGACCAGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTG
NG_033120.1:g.4513_4514insTGGTCTCGGGAACAAAAAGCAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC

Transcript Alleles

HGVS Amino-acid Change
NR_003051.3:n.267_268insCTTTTTGTTCCCGAGACCAGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTG , LRG_163t1:n.267_268insCTTTTTGTTCCCGAGACCAGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTG