Canonical Allele Identifier: CA295394073

Gene: TYMS ENOSF1

Linked Data

• dbSNP Id: rs772159761
• gnomAD v4: 18-672847-A-AT
• MyVariant Identifiers: chr18:g.672847_672848insT (hg19) ; chr18:g.672847_672848insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672851dup , CM000680.2:g.672851dup	GRCh38
NC_000018.9:g.672851dup , CM000680.1:g.672851dup	GRCh37
NC_000018.8:g.662851dup	NCBI36
NG_028255.1:g.20248dup , LRG_783:g.20248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.805-9dup (TYMS) MANE Select	ENSP00000315644.10:n.805-9dup
ENST00000647584.2:c.*1457dup (ENOSF1) MANE Select	ENSP00000497230.2:n.*1457dup
ENST00000323224.7:c.703-9dup (TYMS)	ENSP00000314727.7:n.703-9dup
ENST00000323250.9:c.556-9dup (TYMS)	ENSP00000314902.5:n.556-9dup
ENST00000323274.14:c.805-9dup (TYMS)	ENSP00000315644.10:n.805-9dup
ENST00000383578.7:c.*373dup (ENOSF1)	ENSP00000373072.3:n.*373dup
ENST00000581920.1:n.383-9dup (TYMS)
ENST00000584259.6:n.3816dup (ENOSF1)
NM_001071.2:c.805-9dup , LRG_783t1:c.805-9dup (TYMS)	NP_001062.1:n.805-9dup
NM_001126123.3:c.*373dup (ENOSF1)	NP_001119595.1:n.*373dup
NM_017512.5:c.*1457dup (ENOSF1)	NP_059982.2:n.*1457dup
NM_202758.3:c.*1457dup (ENOSF1)	NP_974487.1:n.*1457dup
XR_243810.3:n.1741dup (ENOSF1)
XR_243811.2:n.1766dup (ENOSF1)
XR_430041.2:n.1861dup (ENOSF1)
NM_001071.3:c.805-9dup (TYMS)	NP_001062.1:n.805-9dup
NM_001354867.1:c.703-9dup (TYMS)	NP_001341796.1:n.703-9dup
NM_001354868.1:c.556-9dup (TYMS)	NP_001341797.1:n.556-9dup
NR_148706.1:n.1666dup (ENOSF1)
NR_148707.1:n.1782dup (ENOSF1)
NR_148708.1:n.2030dup (ENOSF1)
NR_148709.1:n.1716dup (ENOSF1)
NR_148710.1:n.1742dup (ENOSF1)
NR_148711.1:n.1593dup (ENOSF1)
NR_148712.1:n.1926dup (ENOSF1)
XM_024451242.1:c.424-9dup (TYMS)	XP_024307010.1:n.424-9dup
XR_002958180.1:n.1494dup (ENOSF1)
XR_430041.4:n.1880dup (ENOSF1)
NM_001071.4:c.805-9dup (TYMS) MANE Select	NP_001062.1:n.805-9dup
NM_017512.7:c.*1457dup (ENOSF1) MANE Select	NP_059982.2:n.*1457dup
NM_001318760.2:c.*1457dup (ENOSF1)	NP_001305689.1:n.*1457dup
NM_001354065.2:c.*1457dup (ENOSF1)	NP_001340994.1:n.*1457dup
NM_001354066.2:c.*1457dup (ENOSF1)	NP_001340995.1:n.*1457dup
NM_001354067.2:c.*1457dup (ENOSF1)	NP_001340996.1:n.*1457dup
NM_001354068.2:c.*1457dup (ENOSF1)	NP_001340997.1:n.*1457dup
NM_001354867.2:c.703-9dup (TYMS)	NP_001341796.1:n.703-9dup
NM_001354868.2:c.556-9dup (TYMS)	NP_001341797.1:n.556-9dup
NM_202758.5:c.*1457dup (ENOSF1)	NP_974487.2:n.*1457dup
NR_148706.2:n.1632dup (ENOSF1)
NR_148707.2:n.1748dup (ENOSF1)
NR_148708.2:n.1996dup (ENOSF1)
NR_148709.2:n.1682dup (ENOSF1)
NR_148710.2:n.1708dup (ENOSF1)
NR_148711.2:n.1559dup (ENOSF1)
NR_148712.2:n.1892dup (ENOSF1)