Canonical Allele Identifier: CA627882822

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.657657_657712dup , CM000680.2:g.657657_657712dup GRCh38
NC_000018.9:g.657657_657712dup , CM000680.1:g.657657_657712dup GRCh37
NC_000018.8:g.647657_647712dup NCBI36
NG_028255.1:g.5054_5109dup , LRG_783:g.5054_5109dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.14:c.-86_-31dup (TYMS) ENSP00000315644.10:n.-86_-31dup
NM_001012716.2:c.*34+141_*34+196dup (TYMSOS) NP_001012734.2:n.*34+141_*34+196dup
NM_001071.2:c.-86_-31dup , LRG_783t1:c.-86_-31dup (TYMS) NP_001062.1:n.-86_-31dup
NM_001071.3:c.-86_-31dup (TYMS) NP_001062.1:n.-86_-31dup
NM_001354867.1:c.-86_-31dup (TYMS) NP_001341796.1:n.-86_-31dup
NM_001354868.1:c.-86_-31dup (TYMS) NP_001341797.1:n.-86_-31dup
NM_001012716.3:c.*34+141_*34+196dup (TYMSOS) NP_001012734.2:n.*34+141_*34+196dup
NR_171001.1:n.450+141_450+196dup (TYMSOS)