Canonical Allele Identifier: CA466419834

Linked Data

dbSNP Id: rs1829623117

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077020_98077023dup , CM000671.2:g.98077020_98077023dup GRCh38
NC_000009.11:g.100839302_100839305dup , CM000671.1:g.100839302_100839305dup GRCh37
NC_000009.10:g.99879123_99879126dup NCBI36
NG_052789.1:g.25344_25347dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+3_448+6dup (NANS) MANE Select ENSP00000210444.5:n.448+3_448+6dup
ENST00000210444.5:c.448+3_448+6dup (NANS) ENSP00000210444.5:n.448+3_448+6dup
ENST00000375098.7:c.*29-7334_*29-7331dup (TRIM14) ENSP00000364239.3:n.*29-7334_*29-7331dup
ENST00000415280.1:c.-107+3_-107+6dup (NANS) ENSP00000404107.1:n.-107+3_-107+6dup
ENST00000461452.1:n.2375+3_2375+6dup (NANS)
ENST00000495319.1:n.652+3_652+6dup (NANS)
NM_018946.3:c.448+3_448+6dup (NANS) NP_061819.2:n.448+3_448+6dup
XM_011518787.1:c.100+3_100+6dup (NANS) XP_011517089.1:n.100+3_100+6dup
XM_011518788.1:c.71+4_71+7dup (NANS) XP_011517090.1:n.71+4_71+7dup
XM_011518787.2:c.100+3_100+6dup (NANS) XP_011517089.1:n.100+3_100+6dup
XM_011518788.2:c.71+4_71+7dup (NANS) XP_011517090.1:n.71+4_71+7dup
XM_017014811.1:c.-107+3_-107+6dup (NANS) XP_016870300.1:n.-107+3_-107+6dup
XM_017015352.2:c.*29-4855_*29-4852dup (TRIM14) XP_016870841.1:n.*29-4855_*29-4852dup
XM_024447574.1:c.100+3_100+6dup (NANS) XP_024303342.1:n.100+3_100+6dup
NM_018946.4:c.448+3_448+6dup (NANS) MANE Select NP_061819.2:n.448+3_448+6dup