Canonical Allele Identifier: CA1866767517

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077225_98077252delinsAGTGCTAGGATTACAGGCATGAGCCACT , CM000671.2:g.98077225_98077252delinsAGTGCTAGGATTACAGGCATGAGCCACT GRCh38
NC_000009.11:g.100839507_100839534delinsAGTGCTAGGATTACAGGCATGAGCCACT , CM000671.1:g.100839507_100839534delinsAGTGCTAGGATTACAGGCATGAGCCACT GRCh37
NC_000009.10:g.99879328_99879355delinsAGTGCTAGGATTACAGGCATGAGCCACT NCBI36
NG_052789.1:g.25549_25576delinsAGTGCTAGGATTACAGGCATGAGCCACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+208_448+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) MANE Select ENSP00000210444.5:n.448+208_448+235delinsAGTGCTAGGATTACAGGCAT...
ENST00000210444.5:c.448+208_448+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) ENSP00000210444.5:n.448+208_448+235delinsAGTGCTAGGATTACAGGCAT...
ENST00000375098.7:c.*29-7565_*29-7538delinsAGTGGCTCATGCCTGTAATCCTAGCACT (TRIM14) ENSP00000364239.3:n.*29-7565_*29-7538delinsAGTGGCTCATGCCTGTAA...
ENST00000415280.1:c.-107+208_-107+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) ENSP00000404107.1:n.-107+208_-107+235delinsAGTGCTAGGATTACAGGC...
ENST00000461452.1:n.2375+208_2375+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS)
ENST00000495319.1:n.652+208_652+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS)
NM_018946.3:c.448+208_448+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) NP_061819.2:n.448+208_448+235delinsAGTGCTAGGATTACAGGCATGAGCCA...
XM_011518787.1:c.100+208_100+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) XP_011517089.1:n.100+208_100+235delinsAGTGCTAGGATTACAGGCATGAG...
XM_011518788.1:c.71+209_71+236delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) XP_011517090.1:n.71+209_71+236delinsAGTGCTAGGATTACAGGCATGAGCC...
XM_011518787.2:c.100+208_100+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) XP_011517089.1:n.100+208_100+235delinsAGTGCTAGGATTACAGGCATGAG...
XM_011518788.2:c.71+209_71+236delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) XP_011517090.1:n.71+209_71+236delinsAGTGCTAGGATTACAGGCATGAGCC...
XM_017014811.1:c.-107+208_-107+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) XP_016870300.1:n.-107+208_-107+235delinsAGTGCTAGGATTACAGGCATG...
XM_017015352.2:c.*29-5086_*29-5059delinsAGTGGCTCATGCCTGTAATCCTAGCACT (TRIM14) XP_016870841.1:n.*29-5086_*29-5059delinsAGTGGCTCATGCCTGTAATCC...
XM_024447574.1:c.100+208_100+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) XP_024303342.1:n.100+208_100+235delinsAGTGCTAGGATTACAGGCATGAG...
NM_018946.4:c.448+208_448+235delinsAGTGCTAGGATTACAGGCATGAGCCACT (NANS) MANE Select NP_061819.2:n.448+208_448+235delinsAGTGCTAGGATTACAGGCATGAGCCA...