Canonical Allele Identifier: CA1866767458

Linked Data

dbSNP Id: rs1829628979

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077131_98077132del , CM000671.2:g.98077131_98077132del GRCh38
NC_000009.11:g.100839413_100839414del , CM000671.1:g.100839413_100839414del GRCh37
NC_000009.10:g.99879234_99879235del NCBI36
NG_052789.1:g.25455_25456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+114_448+115del (NANS) MANE Select ENSP00000210444.5:n.448+114_448+115del
ENST00000210444.5:c.448+114_448+115del (NANS) ENSP00000210444.5:n.448+114_448+115del
ENST00000375098.7:c.*29-7443_*29-7442del (TRIM14) ENSP00000364239.3:n.*29-7443_*29-7442del
ENST00000415280.1:c.-107+114_-107+115del (NANS) ENSP00000404107.1:n.-107+114_-107+115del
ENST00000461452.1:n.2375+114_2375+115del (NANS)
ENST00000495319.1:n.652+114_652+115del (NANS)
NM_018946.3:c.448+114_448+115del (NANS) NP_061819.2:n.448+114_448+115del
XM_011518787.1:c.100+114_100+115del (NANS) XP_011517089.1:n.100+114_100+115del
XM_011518788.1:c.71+115_71+116del (NANS) XP_011517090.1:n.71+115_71+116del
XM_011518787.2:c.100+114_100+115del (NANS) XP_011517089.1:n.100+114_100+115del
XM_011518788.2:c.71+115_71+116del (NANS) XP_011517090.1:n.71+115_71+116del
XM_017014811.1:c.-107+114_-107+115del (NANS) XP_016870300.1:n.-107+114_-107+115del
XM_017015352.2:c.*29-4964_*29-4963del (TRIM14) XP_016870841.1:n.*29-4964_*29-4963del
XM_024447574.1:c.100+114_100+115del (NANS) XP_024303342.1:n.100+114_100+115del
NM_018946.4:c.448+114_448+115del (NANS) MANE Select NP_061819.2:n.448+114_448+115del