Canonical Allele Identifier: CA1866767459

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077129_98077144delinsTTTTCATTTTTTTAAA , CM000671.2:g.98077129_98077144delinsTTTTCATTTTTTTAAA GRCh38
NC_000009.11:g.100839411_100839426delinsTTTTCATTTTTTTAAA , CM000671.1:g.100839411_100839426delinsTTTTCATTTTTTTAAA GRCh37
NC_000009.10:g.99879232_99879247delinsTTTTCATTTTTTTAAA NCBI36
NG_052789.1:g.25453_25468delinsTTTTCATTTTTTTAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+112_448+127delinsTTTTCATTTTTTTAAA (NANS) MANE Select ENSP00000210444.5:n.448+112_448+127delinsTTTTCATTTTTTTAAA
ENST00000210444.5:c.448+112_448+127delinsTTTTCATTTTTTTAAA (NANS) ENSP00000210444.5:n.448+112_448+127delinsTTTTCATTTTTTTAAA
ENST00000375098.7:c.*29-7457_*29-7442delinsTTTAAAAAAATGAAAA (TRIM14) ENSP00000364239.3:n.*29-7457_*29-7442delinsTTTAAAAAAATGAAAA
ENST00000415280.1:c.-107+112_-107+127delinsTTTTCATTTTTTTAAA (NANS) ENSP00000404107.1:n.-107+112_-107+127delinsTTTTCATTTTTTTAAA
ENST00000461452.1:n.2375+112_2375+127delinsTTTTCATTTTTTTAAA (NANS)
ENST00000495319.1:n.652+112_652+127delinsTTTTCATTTTTTTAAA (NANS)
NM_018946.3:c.448+112_448+127delinsTTTTCATTTTTTTAAA (NANS) NP_061819.2:n.448+112_448+127delinsTTTTCATTTTTTTAAA
XM_011518787.1:c.100+112_100+127delinsTTTTCATTTTTTTAAA (NANS) XP_011517089.1:n.100+112_100+127delinsTTTTCATTTTTTTAAA
XM_011518788.1:c.71+113_71+128delinsTTTTCATTTTTTTAAA (NANS) XP_011517090.1:n.71+113_71+128delinsTTTTCATTTTTTTAAA
XM_011518787.2:c.100+112_100+127delinsTTTTCATTTTTTTAAA (NANS) XP_011517089.1:n.100+112_100+127delinsTTTTCATTTTTTTAAA
XM_011518788.2:c.71+113_71+128delinsTTTTCATTTTTTTAAA (NANS) XP_011517090.1:n.71+113_71+128delinsTTTTCATTTTTTTAAA
XM_017014811.1:c.-107+112_-107+127delinsTTTTCATTTTTTTAAA (NANS) XP_016870300.1:n.-107+112_-107+127delinsTTTTCATTTTTTTAAA
XM_017015352.2:c.*29-4978_*29-4963delinsTTTAAAAAAATGAAAA (TRIM14) XP_016870841.1:n.*29-4978_*29-4963delinsTTTAAAAAAATGAAAA
XM_024447574.1:c.100+112_100+127delinsTTTTCATTTTTTTAAA (NANS) XP_024303342.1:n.100+112_100+127delinsTTTTCATTTTTTTAAA
NM_018946.4:c.448+112_448+127delinsTTTTCATTTTTTTAAA (NANS) MANE Select NP_061819.2:n.448+112_448+127delinsTTTTCATTTTTTTAAA