Canonical Allele Identifier: CA2690915430

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077129_98077133del , CM000671.2:g.98077129_98077133del GRCh38
NC_000009.11:g.100839411_100839415del , CM000671.1:g.100839411_100839415del GRCh37
NC_000009.10:g.99879232_99879236del NCBI36
NG_052789.1:g.25453_25457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+112_448+116del (NANS) MANE Select ENSP00000210444.5:n.448+112_448+116del
ENST00000210444.5:c.448+112_448+116del (NANS) ENSP00000210444.5:n.448+112_448+116del
ENST00000375098.7:c.*29-7444_*29-7440del (TRIM14) ENSP00000364239.3:n.*29-7444_*29-7440del
ENST00000415280.1:c.-107+112_-107+116del (NANS) ENSP00000404107.1:n.-107+112_-107+116del
ENST00000461452.1:n.2375+112_2375+116del (NANS)
ENST00000495319.1:n.652+112_652+116del (NANS)
NM_018946.3:c.448+112_448+116del (NANS) NP_061819.2:n.448+112_448+116del
XM_011518787.1:c.100+112_100+116del (NANS) XP_011517089.1:n.100+112_100+116del
XM_011518788.1:c.71+113_71+117del (NANS) XP_011517090.1:n.71+113_71+117del
XM_011518787.2:c.100+112_100+116del (NANS) XP_011517089.1:n.100+112_100+116del
XM_011518788.2:c.71+113_71+117del (NANS) XP_011517090.1:n.71+113_71+117del
XM_017014811.1:c.-107+112_-107+116del (NANS) XP_016870300.1:n.-107+112_-107+116del
XM_017015352.2:c.*29-4965_*29-4961del (TRIM14) XP_016870841.1:n.*29-4965_*29-4961del
XM_024447574.1:c.100+112_100+116del (NANS) XP_024303342.1:n.100+112_100+116del
NM_018946.4:c.448+112_448+116del (NANS) MANE Select NP_061819.2:n.448+112_448+116del