Canonical Allele Identifier: CA589339410
Gene: NANS HGNC NCBI
TRIM14 HGNC NCBI

Linked Data

dbSNP Id: rs1829615391
gnomAD v2: 9-100839157-TTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC-T
gnomAD v3: 9-98076875-TTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC-T
gnomAD v4: 9-98076875-TTTGGACAATGGTGAAAAGGAGCTCCCTCTTTGATTTTTGTAGATGGCAGTTGAATTCCTGCATGAACTGAATGTTCCATTTTTCAAAGTTGGATCTGGAGACACTAATAATTTTC-T
MyVariant Identifiers: chr9:g.100839158_100839272del (hg19) chr9:g.98076876_98076990del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076876_98076990del , CM000671.2:g.98076876_98076990del GRCh38
NC_000009.11:g.100839158_100839272del , CM000671.1:g.100839158_100839272del GRCh37
NC_000009.10:g.99878979_99879093del NCBI36
NG_052789.1:g.25200_25314del

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-42_421del (NANS)
ENST00000210444.5:c.349-42_421del (NANS)
ENST00000375098.7:c.*29-7303_*29-7189del (TRIM14) ENSP00000364239.3:n.*29-7303_*29-7189del
ENST00000415280.1:c.-248_-134del (NANS) ENSP00000404107.1:n.-248_-134del
ENST00000461452.1:n.2234_2348del (NANS)
ENST00000495319.1:n.553-42_625del (NANS)
NM_018946.3:c.349-42_421del (NANS)
XM_011518787.1:c.1-42_73del (NANS)
XM_011518787.2:c.1-42_73del (NANS)
XM_017014811.1:c.-206-42_-134del (NANS)
XM_017015352.2:c.*29-4824_*29-4710del (TRIM14) XP_016870841.1:n.*29-4824_*29-4710del
XM_024447574.1:c.-42_73del (NANS)
NM_018946.4:c.349-42_421del (NANS)
Search 100 bp 5'
Search 100 bp 3'