Canonical Allele Identifier: CA2810715019

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.673093_673099del , CM000680.2:g.673093_673099del GRCh38
NC_000018.9:g.673093_673099del , CM000680.1:g.673093_673099del GRCh37
NC_000018.8:g.663093_663099del NCBI36
NG_028255.1:g.20490_20496del , LRG_783:g.20490_20496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.*96_*102del (TYMS) MANE Select ENSP00000315644.10:n.*96_*102del
ENST00000647584.2:c.*1206_*1212del (ENOSF1) MANE Select ENSP00000497230.2:n.*1206_*1212del
ENST00000323224.7:c.936_942del (TYMS) ENSP00000314727.7:n.936_942del
ENST00000323274.14:c.*96_*102del (TYMS) ENSP00000315644.10:n.*96_*102del
ENST00000383578.7:c.*145-23_*145-17del (ENOSF1) ENSP00000373072.3:n.*145-23_*145-17del
ENST00000581920.1:n.616_622del (TYMS)
ENST00000584259.6:n.3588-23_3588-17del (ENOSF1)
NM_001071.2:c.*96_*102del , LRG_783t1:c.*96_*102del (TYMS) NP_001062.1:n.*96_*102del
NM_001126123.3:c.*145-23_*145-17del (ENOSF1) NP_001119595.1:n.*145-23_*145-17del
NM_017512.5:c.*1206_*1212del (ENOSF1) NP_059982.2:n.*1206_*1212del
NM_202758.3:c.*1206_*1212del (ENOSF1) NP_974487.1:n.*1206_*1212del
XR_243810.3:n.1513-23_1513-17del (ENOSF1)
XR_243811.2:n.1538-23_1538-17del (ENOSF1)
XR_430041.2:n.1633-23_1633-17del (ENOSF1)
NM_001071.3:c.*96_*102del (TYMS) NP_001062.1:n.*96_*102del
NM_001354867.1:c.*96_*102del (TYMS) NP_001341796.1:n.*96_*102del
NM_001354868.1:c.*96_*102del (TYMS) NP_001341797.1:n.*96_*102del
NR_148706.1:n.1438-23_1438-17del (ENOSF1)
NR_148707.1:n.1554-23_1554-17del (ENOSF1)
NR_148708.1:n.1802-23_1802-17del (ENOSF1)
NR_148709.1:n.1488-23_1488-17del (ENOSF1)
NR_148710.1:n.1514-23_1514-17del (ENOSF1)
NR_148711.1:n.1365-23_1365-17del (ENOSF1)
NR_148712.1:n.1698-23_1698-17del (ENOSF1)
XM_024451242.1:c.*96_*102del (TYMS) XP_024307010.1:n.*96_*102del
XR_002958180.1:n.1266-23_1266-17del (ENOSF1)
XR_430041.4:n.1652-23_1652-17del (ENOSF1)
NM_001071.4:c.*96_*102del (TYMS) MANE Select NP_001062.1:n.*96_*102del
NM_017512.7:c.*1206_*1212del (ENOSF1) MANE Select NP_059982.2:n.*1206_*1212del
NM_001318760.2:c.*1206_*1212del (ENOSF1) NP_001305689.1:n.*1206_*1212del
NM_001354065.2:c.*1206_*1212del (ENOSF1) NP_001340994.1:n.*1206_*1212del
NM_001354066.2:c.*1206_*1212del (ENOSF1) NP_001340995.1:n.*1206_*1212del
NM_001354067.2:c.*1206_*1212del (ENOSF1) NP_001340996.1:n.*1206_*1212del
NM_001354068.2:c.*1206_*1212del (ENOSF1) NP_001340997.1:n.*1206_*1212del
NM_001354867.2:c.*96_*102del (TYMS) NP_001341796.1:n.*96_*102del
NM_001354868.2:c.*96_*102del (TYMS) NP_001341797.1:n.*96_*102del
NM_202758.5:c.*1206_*1212del (ENOSF1) NP_974487.2:n.*1206_*1212del
NR_148706.2:n.1404-23_1404-17del (ENOSF1)
NR_148707.2:n.1520-23_1520-17del (ENOSF1)
NR_148708.2:n.1768-23_1768-17del (ENOSF1)
NR_148709.2:n.1454-23_1454-17del (ENOSF1)
NR_148710.2:n.1480-23_1480-17del (ENOSF1)
NR_148711.2:n.1331-23_1331-17del (ENOSF1)
NR_148712.2:n.1664-23_1664-17del (ENOSF1)