Canonical Allele Identifier: CA918516212

Linked Data

dbSNP Id: rs1587924395

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077089_98077091del , CM000671.2:g.98077089_98077091del GRCh38
NC_000009.11:g.100839371_100839373del , CM000671.1:g.100839371_100839373del GRCh37
NC_000009.10:g.99879192_99879194del NCBI36
NG_052789.1:g.25413_25415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+72_448+74del (NANS) MANE Select ENSP00000210444.5:n.448+72_448+74del
ENST00000210444.5:c.448+72_448+74del (NANS) ENSP00000210444.5:n.448+72_448+74del
ENST00000375098.7:c.*29-7404_*29-7402del (TRIM14) ENSP00000364239.3:n.*29-7404_*29-7402del
ENST00000415280.1:c.-107+72_-107+74del (NANS) ENSP00000404107.1:n.-107+72_-107+74del
ENST00000461452.1:n.2375+72_2375+74del (NANS)
ENST00000495319.1:n.652+72_652+74del (NANS)
NM_018946.3:c.448+72_448+74del (NANS) NP_061819.2:n.448+72_448+74del
XM_011518787.1:c.100+72_100+74del (NANS) XP_011517089.1:n.100+72_100+74del
XM_011518788.1:c.71+73_71+75del (NANS) XP_011517090.1:n.71+73_71+75del
XM_011518787.2:c.100+72_100+74del (NANS) XP_011517089.1:n.100+72_100+74del
XM_011518788.2:c.71+73_71+75del (NANS) XP_011517090.1:n.71+73_71+75del
XM_017014811.1:c.-107+72_-107+74del (NANS) XP_016870300.1:n.-107+72_-107+74del
XM_017015352.2:c.*29-4925_*29-4923del (TRIM14) XP_016870841.1:n.*29-4925_*29-4923del
XM_024447574.1:c.100+72_100+74del (NANS) XP_024303342.1:n.100+72_100+74del
NM_018946.4:c.448+72_448+74del (NANS) MANE Select NP_061819.2:n.448+72_448+74del