Canonical Allele Identifier: CA869034904

Linked Data

dbSNP Id: rs1237070168

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077230_98077256del , CM000671.2:g.98077230_98077256del GRCh38
NC_000009.11:g.100839512_100839538del , CM000671.1:g.100839512_100839538del GRCh37
NC_000009.10:g.99879333_99879359del NCBI36
NG_052789.1:g.25554_25580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+213_448+239del (NANS) MANE Select ENSP00000210444.5:n.448+213_448+239del
ENST00000210444.5:c.448+213_448+239del (NANS) ENSP00000210444.5:n.448+213_448+239del
ENST00000375098.7:c.*29-7565_*29-7539del (TRIM14) ENSP00000364239.3:n.*29-7565_*29-7539del
ENST00000415280.1:c.-107+213_-107+239del (NANS) ENSP00000404107.1:n.-107+213_-107+239del
ENST00000461452.1:n.2375+213_2375+239del (NANS)
ENST00000495319.1:n.652+213_652+239del (NANS)
NM_018946.3:c.448+213_448+239del (NANS) NP_061819.2:n.448+213_448+239del
XM_011518787.1:c.100+213_100+239del (NANS) XP_011517089.1:n.100+213_100+239del
XM_011518788.1:c.71+214_71+240del (NANS) XP_011517090.1:n.71+214_71+240del
XM_011518787.2:c.100+213_100+239del (NANS) XP_011517089.1:n.100+213_100+239del
XM_011518788.2:c.71+214_71+240del (NANS) XP_011517090.1:n.71+214_71+240del
XM_017014811.1:c.-107+213_-107+239del (NANS) XP_016870300.1:n.-107+213_-107+239del
XM_017015352.2:c.*29-5086_*29-5060del (TRIM14) XP_016870841.1:n.*29-5086_*29-5060del
XM_024447574.1:c.100+213_100+239del (NANS) XP_024303342.1:n.100+213_100+239del
NM_018946.4:c.448+213_448+239del (NANS) MANE Select NP_061819.2:n.448+213_448+239del