Canonical Allele Identifier: CA1866767115

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076875_98076894delinsTTTGGACAATGGTGAAAAGG , CM000671.2:g.98076875_98076894delinsTTTGGACAATGGTGAAAAGG GRCh38
NC_000009.11:g.100839157_100839176delinsTTTGGACAATGGTGAAAAGG , CM000671.1:g.100839157_100839176delinsTTTGGACAATGGTGAAAAGG GRCh37
NC_000009.10:g.99878978_99878997delinsTTTGGACAATGGTGAAAAGG NCBI36
NG_052789.1:g.25199_25218delinsTTTGGACAATGGTGAAAAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-43_349-24delinsTTTGGACAATGGTGAAAAGG (NANS) MANE Select ENSP00000210444.5:n.349-43_349-24delinsTTTGGACAATGGTGAAAAGG
ENST00000210444.5:c.349-43_349-24delinsTTTGGACAATGGTGAAAAGG (NANS) ENSP00000210444.5:n.349-43_349-24delinsTTTGGACAATGGTGAAAAGG
ENST00000375098.7:c.*29-7207_*29-7188delinsCCTTTTCACCATTGTCCAAA (TRIM14) ENSP00000364239.3:n.*29-7207_*29-7188delinsCCTTTTCACCATTGTCCA...
ENST00000415280.1:c.-249_-230delinsTTTGGACAATGGTGAAAAGG (NANS) ENSP00000404107.1:n.-249_-230delinsTTTGGACAATGGTGAAAAGG
ENST00000461452.1:n.2233_2252delinsTTTGGACAATGGTGAAAAGG (NANS)
ENST00000495319.1:n.553-43_553-24delinsTTTGGACAATGGTGAAAAGG (NANS)
NM_018946.3:c.349-43_349-24delinsTTTGGACAATGGTGAAAAGG (NANS) NP_061819.2:n.349-43_349-24delinsTTTGGACAATGGTGAAAAGG
XM_011518787.1:c.1-43_1-24delinsTTTGGACAATGGTGAAAAGG (NANS) XP_011517089.1:n.1-43_1-24delinsTTTGGACAATGGTGAAAAGG
XM_011518787.2:c.1-43_1-24delinsTTTGGACAATGGTGAAAAGG (NANS) XP_011517089.1:n.1-43_1-24delinsTTTGGACAATGGTGAAAAGG
XM_017014811.1:c.-206-43_-206-24delinsTTTGGACAATGGTGAAAAGG (NANS) XP_016870300.1:n.-206-43_-206-24delinsTTTGGACAATGGTGAAAAGG
XM_017015352.2:c.*29-4728_*29-4709delinsCCTTTTCACCATTGTCCAAA (TRIM14) XP_016870841.1:n.*29-4728_*29-4709delinsCCTTTTCACCATTGTCCAAA
XM_024447574.1:c.-43_-24delinsTTTGGACAATGGTGAAAAGG (NANS) XP_024303342.1:n.-43_-24delinsTTTGGACAATGGTGAAAAGG
NM_018946.4:c.349-43_349-24delinsTTTGGACAATGGTGAAAAGG (NANS) MANE Select NP_061819.2:n.349-43_349-24delinsTTTGGACAATGGTGAAAAGG