Canonical Allele Identifier: CA1866767312

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077010_98077011delinsCA , CM000671.2:g.98077010_98077011delinsCA GRCh38
NC_000009.11:g.100839292_100839293delinsCA , CM000671.1:g.100839292_100839293delinsCA GRCh37
NC_000009.10:g.99879113_99879114delinsCA NCBI36
NG_052789.1:g.25334_25335delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.441_442delinsCA (NANS) MANE Select ENSP00000210444.5:p.Ala147=
ENST00000210444.5:c.441_442delinsCA (NANS) ENSP00000210444.5:p.Ala147=
ENST00000375098.7:c.*29-7324_*29-7323delinsTG (TRIM14) ENSP00000364239.3:n.*29-7324_*29-7323delinsTG
ENST00000415280.1:c.-114_-113delinsCA (NANS) ENSP00000404107.1:n.-114_-113delinsCA
ENST00000461452.1:n.2368_2369delinsCA (NANS)
ENST00000495319.1:n.645_646delinsCA (NANS)
NM_018946.3:c.441_442delinsCA (NANS) NP_061819.2:p.Ala147=
XM_011518787.1:c.93_94delinsCA (NANS) XP_011517089.1:p.Ala31=
XM_011518788.1:c.65_66delinsCA (NANS) XP_011517090.1:p.Pro22=
XM_011518787.2:c.93_94delinsCA (NANS) XP_011517089.1:p.Ala31=
XM_011518788.2:c.65_66delinsCA (NANS) XP_011517090.1:p.Pro22=
XM_017014811.1:c.-114_-113delinsCA (NANS) XP_016870300.1:n.-114_-113delinsCA
XM_017015352.2:c.*29-4845_*29-4844delinsTG (TRIM14) XP_016870841.1:n.*29-4845_*29-4844delinsTG
XM_024447574.1:c.93_94delinsCA (NANS) XP_024303342.1:p.Ala31=
NM_018946.4:c.441_442delinsCA (NANS) MANE Select NP_061819.2:p.Ala147=