Canonical Allele Identifier: CA2785243568

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077013_98077014insCACACCCAACAC , CM000671.2:g.98077013_98077014insCACACCCAACAC GRCh38
NC_000009.11:g.100839295_100839296insCACACCCAACAC , CM000671.1:g.100839295_100839296insCACACCCAACAC GRCh37
NC_000009.10:g.99879116_99879117insCACACCCAACAC NCBI36
NG_052789.1:g.25337_25338insCACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.444_445insCACACCCAACAC (NANS) MANE Select ENSP00000210444.5:p.Lys148_Lys149insHisThrGlnHis
ENST00000210444.5:c.444_445insCACACCCAACAC (NANS) ENSP00000210444.5:p.Lys148_Lys149insHisThrGlnHis
ENST00000375098.7:c.*29-7327_*29-7326insGTGTTGGGTGTG (TRIM14) ENSP00000364239.3:n.*29-7327_*29-7326insGTGTTGGGTGTG
ENST00000415280.1:c.-111_-110insCACACCCAACAC (NANS) ENSP00000404107.1:n.-111_-110insCACACCCAACAC
ENST00000461452.1:n.2371_2372insCACACCCAACAC (NANS)
ENST00000495319.1:n.648_649insCACACCCAACAC (NANS)
NM_018946.3:c.444_445insCACACCCAACAC (NANS) NP_061819.2:p.Lys148_Lys149insHisThrGlnHis
XM_011518787.1:c.96_97insCACACCCAACAC (NANS) XP_011517089.1:p.Lys32_Lys33insHisThrGlnHis
XM_011518788.1:c.68_69insCACACCCAACAC (NANS) XP_011517090.1:p.Lys23delinsAsnThrProAsnThr
XM_011518787.2:c.96_97insCACACCCAACAC (NANS) XP_011517089.1:p.Lys32_Lys33insHisThrGlnHis
XM_011518788.2:c.68_69insCACACCCAACAC (NANS) XP_011517090.1:p.Lys23delinsAsnThrProAsnThr
XM_017014811.1:c.-111_-110insCACACCCAACAC (NANS) XP_016870300.1:n.-111_-110insCACACCCAACAC
XM_017015352.2:c.*29-4848_*29-4847insGTGTTGGGTGTG (TRIM14) XP_016870841.1:n.*29-4848_*29-4847insGTGTTGGGTGTG
XM_024447574.1:c.96_97insCACACCCAACAC (NANS) XP_024303342.1:p.Lys32_Lys33insHisThrGlnHis
NM_018946.4:c.444_445insCACACCCAACAC (NANS) MANE Select NP_061819.2:p.Lys148_Lys149insHisThrGlnHis