Canonical Allele Identifier: CA2690915439

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077140_98077141del , CM000671.2:g.98077140_98077141del GRCh38
NC_000009.11:g.100839422_100839423del , CM000671.1:g.100839422_100839423del GRCh37
NC_000009.10:g.99879243_99879244del NCBI36
NG_052789.1:g.25464_25465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+123_448+124del (NANS) MANE Select ENSP00000210444.5:n.448+123_448+124del
ENST00000210444.5:c.448+123_448+124del (NANS) ENSP00000210444.5:n.448+123_448+124del
ENST00000375098.7:c.*29-7449_*29-7448del (TRIM14) ENSP00000364239.3:n.*29-7449_*29-7448del
ENST00000415280.1:c.-107+123_-107+124del (NANS) ENSP00000404107.1:n.-107+123_-107+124del
ENST00000461452.1:n.2375+123_2375+124del (NANS)
ENST00000495319.1:n.652+123_652+124del (NANS)
NM_018946.3:c.448+123_448+124del (NANS) NP_061819.2:n.448+123_448+124del
XM_011518787.1:c.100+123_100+124del (NANS) XP_011517089.1:n.100+123_100+124del
XM_011518788.1:c.71+124_71+125del (NANS) XP_011517090.1:n.71+124_71+125del
XM_011518787.2:c.100+123_100+124del (NANS) XP_011517089.1:n.100+123_100+124del
XM_011518788.2:c.71+124_71+125del (NANS) XP_011517090.1:n.71+124_71+125del
XM_017014811.1:c.-107+123_-107+124del (NANS) XP_016870300.1:n.-107+123_-107+124del
XM_017015352.2:c.*29-4970_*29-4969del (TRIM14) XP_016870841.1:n.*29-4970_*29-4969del
XM_024447574.1:c.100+123_100+124del (NANS) XP_024303342.1:n.100+123_100+124del
NM_018946.4:c.448+123_448+124del (NANS) MANE Select NP_061819.2:n.448+123_448+124del