Canonical Allele Identifier: CA1866767428

Linked Data

dbSNP Id: rs1829627506

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077094_98077095insAA , CM000671.2:g.98077094_98077095insAA GRCh38
NC_000009.11:g.100839376_100839377insAA , CM000671.1:g.100839376_100839377insAA GRCh37
NC_000009.10:g.99879197_99879198insAA NCBI36
NG_052789.1:g.25418_25419insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+77_448+78insAA (NANS) MANE Select ENSP00000210444.5:n.448+77_448+78insAA
ENST00000210444.5:c.448+77_448+78insAA (NANS) ENSP00000210444.5:n.448+77_448+78insAA
ENST00000375098.7:c.*29-7408_*29-7407insTT (TRIM14) ENSP00000364239.3:n.*29-7408_*29-7407insTT
ENST00000415280.1:c.-107+77_-107+78insAA (NANS) ENSP00000404107.1:n.-107+77_-107+78insAA
ENST00000461452.1:n.2375+77_2375+78insAA (NANS)
ENST00000495319.1:n.652+77_652+78insAA (NANS)
NM_018946.3:c.448+77_448+78insAA (NANS) NP_061819.2:n.448+77_448+78insAA
XM_011518787.1:c.100+77_100+78insAA (NANS) XP_011517089.1:n.100+77_100+78insAA
XM_011518788.1:c.71+78_71+79insAA (NANS) XP_011517090.1:n.71+78_71+79insAA
XM_011518787.2:c.100+77_100+78insAA (NANS) XP_011517089.1:n.100+77_100+78insAA
XM_011518788.2:c.71+78_71+79insAA (NANS) XP_011517090.1:n.71+78_71+79insAA
XM_017014811.1:c.-107+77_-107+78insAA (NANS) XP_016870300.1:n.-107+77_-107+78insAA
XM_017015352.2:c.*29-4929_*29-4928insTT (TRIM14) XP_016870841.1:n.*29-4929_*29-4928insTT
XM_024447574.1:c.100+77_100+78insAA (NANS) XP_024303342.1:n.100+77_100+78insAA
NM_018946.4:c.448+77_448+78insAA (NANS) MANE Select NP_061819.2:n.448+77_448+78insAA