Canonical Allele Identifier: CA1866767512

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077216_98077217delinsAC , CM000671.2:g.98077216_98077217delinsAC GRCh38
NC_000009.11:g.100839498_100839499delinsAC , CM000671.1:g.100839498_100839499delinsAC GRCh37
NC_000009.10:g.99879319_99879320delinsAC NCBI36
NG_052789.1:g.25540_25541delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+199_448+200delinsAC (NANS) MANE Select ENSP00000210444.5:n.448+199_448+200delinsAC
ENST00000210444.5:c.448+199_448+200delinsAC (NANS) ENSP00000210444.5:n.448+199_448+200delinsAC
ENST00000375098.7:c.*29-7530_*29-7529delinsGT (TRIM14) ENSP00000364239.3:n.*29-7530_*29-7529delinsGT
ENST00000415280.1:c.-107+199_-107+200delinsAC (NANS) ENSP00000404107.1:n.-107+199_-107+200delinsAC
ENST00000461452.1:n.2375+199_2375+200delinsAC (NANS)
ENST00000495319.1:n.652+199_652+200delinsAC (NANS)
NM_018946.3:c.448+199_448+200delinsAC (NANS) NP_061819.2:n.448+199_448+200delinsAC
XM_011518787.1:c.100+199_100+200delinsAC (NANS) XP_011517089.1:n.100+199_100+200delinsAC
XM_011518788.1:c.71+200_71+201delinsAC (NANS) XP_011517090.1:n.71+200_71+201delinsAC
XM_011518787.2:c.100+199_100+200delinsAC (NANS) XP_011517089.1:n.100+199_100+200delinsAC
XM_011518788.2:c.71+200_71+201delinsAC (NANS) XP_011517090.1:n.71+200_71+201delinsAC
XM_017014811.1:c.-107+199_-107+200delinsAC (NANS) XP_016870300.1:n.-107+199_-107+200delinsAC
XM_017015352.2:c.*29-5051_*29-5050delinsGT (TRIM14) XP_016870841.1:n.*29-5051_*29-5050delinsGT
XM_024447574.1:c.100+199_100+200delinsAC (NANS) XP_024303342.1:n.100+199_100+200delinsAC
NM_018946.4:c.448+199_448+200delinsAC (NANS) MANE Select NP_061819.2:n.448+199_448+200delinsAC