Canonical Allele Identifier: CA2690915353

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076913del , CM000671.2:g.98076913del GRCh38
NC_000009.11:g.100839195del , CM000671.1:g.100839195del GRCh37
NC_000009.10:g.99879016del NCBI36
NG_052789.1:g.25237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.349-5del (NANS) MANE Select ENSP00000210444.5:n.349-5del
ENST00000210444.5:c.349-5del (NANS) ENSP00000210444.5:n.349-5del
ENST00000375098.7:c.*29-7222del (TRIM14) ENSP00000364239.3:n.*29-7222del
ENST00000415280.1:c.-211del (NANS) ENSP00000404107.1:n.-211del
ENST00000461452.1:n.2271del (NANS)
ENST00000495319.1:n.553-5del (NANS)
NM_018946.3:c.349-5del (NANS) NP_061819.2:n.349-5del
XM_011518787.1:c.1-5del (NANS) XP_011517089.1:n.1-5del
XM_011518787.2:c.1-5del (NANS) XP_011517089.1:n.1-5del
XM_017014811.1:c.-206-5del (NANS) XP_016870300.1:n.-206-5del
XM_017015352.2:c.*29-4743del (TRIM14) XP_016870841.1:n.*29-4743del
XM_024447574.1:c.-5del (NANS) XP_024303342.1:n.-5del
NM_018946.4:c.349-5del (NANS) MANE Select NP_061819.2:n.349-5del