Canonical Allele Identifier: CA2640776614

Linked Data

gnomAD v4: 18-672396-T-TC

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672396_672397insC , CM000680.2:g.672396_672397insC GRCh38
NC_000018.9:g.672396_672397insC , CM000680.1:g.672396_672397insC GRCh37
NC_000018.8:g.662396_662397insC NCBI36
NG_028255.1:g.19793_19794insC , LRG_783:g.19793_19794insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.805-464_805-463insC (TYMS) MANE Select ENSP00000315644.10:n.805-464_805-463insC
ENST00000647584.2:c.*1908_*1909insG (ENOSF1) MANE Select ENSP00000497230.2:n.*1908_*1909insG
ENST00000323224.7:c.703-464_703-463insC (TYMS) ENSP00000314727.7:n.703-464_703-463insC
ENST00000323250.9:c.556-464_556-463insC (TYMS) ENSP00000314902.5:n.556-464_556-463insC
ENST00000323274.14:c.805-464_805-463insC (TYMS) ENSP00000315644.10:n.805-464_805-463insC
ENST00000383578.7:c.*824_*825insG (ENOSF1) ENSP00000373072.3:n.*824_*825insG
ENST00000581920.1:n.383-464_383-463insC (TYMS)
ENST00000584259.6:n.4267_4268insG (ENOSF1)
NM_001071.2:c.805-464_805-463insC , LRG_783t1:c.805-464_805-463insC (TYMS) NP_001062.1:n.805-464_805-463insC
NM_001126123.3:c.*824_*825insG (ENOSF1) NP_001119595.1:n.*824_*825insG
NM_017512.5:c.*1908_*1909insG (ENOSF1) NP_059982.2:n.*1908_*1909insG
NM_202758.3:c.*1908_*1909insG (ENOSF1) NP_974487.1:n.*1908_*1909insG
NM_001071.3:c.805-464_805-463insC (TYMS) NP_001062.1:n.805-464_805-463insC
NM_001354867.1:c.703-464_703-463insC (TYMS) NP_001341796.1:n.703-464_703-463insC
NM_001354868.1:c.556-464_556-463insC (TYMS) NP_001341797.1:n.556-464_556-463insC
NR_148706.1:n.2117_2118insG (ENOSF1)
NR_148707.1:n.2233_2234insG (ENOSF1)
NR_148708.1:n.2481_2482insG (ENOSF1)
NR_148709.1:n.2167_2168insG (ENOSF1)
NR_148710.1:n.2193_2194insG (ENOSF1)
NR_148711.1:n.2044_2045insG (ENOSF1)
NR_148712.1:n.2377_2378insG (ENOSF1)
XM_024451242.1:c.424-464_424-463insC (TYMS) XP_024307010.1:n.424-464_424-463insC
XR_002958180.1:n.1945_1946insG (ENOSF1)
XR_430041.4:n.2331_2332insG (ENOSF1)
NM_001071.4:c.805-464_805-463insC (TYMS) MANE Select NP_001062.1:n.805-464_805-463insC
NM_017512.7:c.*1908_*1909insG (ENOSF1) MANE Select NP_059982.2:n.*1908_*1909insG
NM_001318760.2:c.*1908_*1909insG (ENOSF1) NP_001305689.1:n.*1908_*1909insG
NM_001354065.2:c.*1908_*1909insG (ENOSF1) NP_001340994.1:n.*1908_*1909insG
NM_001354066.2:c.*1908_*1909insG (ENOSF1) NP_001340995.1:n.*1908_*1909insG
NM_001354067.2:c.*1908_*1909insG (ENOSF1) NP_001340996.1:n.*1908_*1909insG
NM_001354068.2:c.*1908_*1909insG (ENOSF1) NP_001340997.1:n.*1908_*1909insG
NM_001354867.2:c.703-464_703-463insC (TYMS) NP_001341796.1:n.703-464_703-463insC
NM_001354868.2:c.556-464_556-463insC (TYMS) NP_001341797.1:n.556-464_556-463insC
NM_202758.5:c.*1908_*1909insG (ENOSF1) NP_974487.2:n.*1908_*1909insG
NR_148706.2:n.2083_2084insG (ENOSF1)
NR_148707.2:n.2199_2200insG (ENOSF1)
NR_148708.2:n.2447_2448insG (ENOSF1)
NR_148709.2:n.2133_2134insG (ENOSF1)
NR_148710.2:n.2159_2160insG (ENOSF1)
NR_148711.2:n.2010_2011insG (ENOSF1)
NR_148712.2:n.2343_2344insG (ENOSF1)