Canonical Allele Identifier: CA2720191180

Linked Data

dbSNP Id: rs1829623395

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077019_98077020insCGCCCAATGGTGATCTCCAGTGGG , CM000671.2:g.98077019_98077020insCGCCCAATGGTGATCTCCAGTGGG GRCh38
NC_000009.11:g.100839301_100839302insCGCCCAATGGTGATCTCCAGTGGG , CM000671.1:g.100839301_100839302insCGCCCAATGGTGATCTCCAGTGGG GRCh37
NC_000009.10:g.99879122_99879123insCGCCCAATGGTGATCTCCAGTGGG NCBI36
NG_052789.1:g.25343_25344insCGCCCAATGGTGATCTCCAGTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) MANE Select ENSP00000210444.5:n.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG
ENST00000210444.5:c.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) ENSP00000210444.5:n.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG
ENST00000375098.7:c.*29-7333_*29-7332insCCCACTGGAGATCACCATTGGGCG (TRIM14) ENSP00000364239.3:n.*29-7333_*29-7332insCCCACTGGAGATCACCATTGG...
ENST00000415280.1:c.-107+2_-107+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) ENSP00000404107.1:n.-107+2_-107+3insCGCCCAATGGTGATCTCCAGTGGG
ENST00000461452.1:n.2375+2_2375+3insCGCCCAATGGTGATCTCCAGTGGG (NANS)
ENST00000495319.1:n.652+2_652+3insCGCCCAATGGTGATCTCCAGTGGG (NANS)
NM_018946.3:c.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) NP_061819.2:n.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG
XM_011518787.1:c.100+2_100+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) XP_011517089.1:n.100+2_100+3insCGCCCAATGGTGATCTCCAGTGGG
XM_011518788.1:c.71+3_71+4insCGCCCAATGGTGATCTCCAGTGGG (NANS) XP_011517090.1:n.71+3_71+4insCGCCCAATGGTGATCTCCAGTGGG
XM_011518787.2:c.100+2_100+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) XP_011517089.1:n.100+2_100+3insCGCCCAATGGTGATCTCCAGTGGG
XM_011518788.2:c.71+3_71+4insCGCCCAATGGTGATCTCCAGTGGG (NANS) XP_011517090.1:n.71+3_71+4insCGCCCAATGGTGATCTCCAGTGGG
XM_017014811.1:c.-107+2_-107+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) XP_016870300.1:n.-107+2_-107+3insCGCCCAATGGTGATCTCCAGTGGG
XM_017015352.2:c.*29-4854_*29-4853insCCCACTGGAGATCACCATTGGGCG (TRIM14) XP_016870841.1:n.*29-4854_*29-4853insCCCACTGGAGATCACCATTGGGCG...
XM_024447574.1:c.100+2_100+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) XP_024303342.1:n.100+2_100+3insCGCCCAATGGTGATCTCCAGTGGG
NM_018946.4:c.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG (NANS) MANE Select NP_061819.2:n.448+2_448+3insCGCCCAATGGTGATCTCCAGTGGG