Canonical Allele Identifier: CA2640776524

Linked Data

gnomAD v4: 18-672287-A-AT

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672287_672288insT , CM000680.2:g.672287_672288insT GRCh38
NC_000018.9:g.672287_672288insT , CM000680.1:g.672287_672288insT GRCh37
NC_000018.8:g.662287_662288insT NCBI36
NG_028255.1:g.19684_19685insT , LRG_783:g.19684_19685insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.805-573_805-572insT (TYMS) MANE Select ENSP00000315644.10:n.805-573_805-572insT
ENST00000647584.2:c.*2017_*2018insA (ENOSF1) MANE Select ENSP00000497230.2:n.*2017_*2018insA
ENST00000323224.7:c.703-573_703-572insT (TYMS) ENSP00000314727.7:n.703-573_703-572insT
ENST00000323250.9:c.556-573_556-572insT (TYMS) ENSP00000314902.5:n.556-573_556-572insT
ENST00000323274.14:c.805-573_805-572insT (TYMS) ENSP00000315644.10:n.805-573_805-572insT
ENST00000383578.7:c.*933_*934insA (ENOSF1) ENSP00000373072.3:n.*933_*934insA
ENST00000581920.1:n.383-573_383-572insT (TYMS)
ENST00000584259.6:n.4376_4377insA (ENOSF1)
NM_001071.2:c.805-573_805-572insT , LRG_783t1:c.805-573_805-572insT (TYMS) NP_001062.1:n.805-573_805-572insT
NM_001126123.3:c.*933_*934insA (ENOSF1) NP_001119595.1:n.*933_*934insA
NM_017512.5:c.*2017_*2018insA (ENOSF1) NP_059982.2:n.*2017_*2018insA
NM_202758.3:c.*2017_*2018insA (ENOSF1) NP_974487.1:n.*2017_*2018insA
NM_001071.3:c.805-573_805-572insT (TYMS) NP_001062.1:n.805-573_805-572insT
NM_001354867.1:c.703-573_703-572insT (TYMS) NP_001341796.1:n.703-573_703-572insT
NM_001354868.1:c.556-573_556-572insT (TYMS) NP_001341797.1:n.556-573_556-572insT
NR_148706.1:n.2226_2227insA (ENOSF1)
NR_148707.1:n.2342_2343insA (ENOSF1)
NR_148708.1:n.2590_2591insA (ENOSF1)
NR_148709.1:n.2276_2277insA (ENOSF1)
NR_148710.1:n.2302_2303insA (ENOSF1)
NR_148711.1:n.2153_2154insA (ENOSF1)
NR_148712.1:n.2486_2487insA (ENOSF1)
XM_024451242.1:c.424-573_424-572insT (TYMS) XP_024307010.1:n.424-573_424-572insT
XR_002958180.1:n.2054_2055insA (ENOSF1)
XR_430041.4:n.2440_2441insA (ENOSF1)
NM_001071.4:c.805-573_805-572insT (TYMS) MANE Select NP_001062.1:n.805-573_805-572insT
NM_017512.7:c.*2017_*2018insA (ENOSF1) MANE Select NP_059982.2:n.*2017_*2018insA
NM_001318760.2:c.*2017_*2018insA (ENOSF1) NP_001305689.1:n.*2017_*2018insA
NM_001354065.2:c.*2017_*2018insA (ENOSF1) NP_001340994.1:n.*2017_*2018insA
NM_001354066.2:c.*2017_*2018insA (ENOSF1) NP_001340995.1:n.*2017_*2018insA
NM_001354067.2:c.*2017_*2018insA (ENOSF1) NP_001340996.1:n.*2017_*2018insA
NM_001354068.2:c.*2017_*2018insA (ENOSF1) NP_001340997.1:n.*2017_*2018insA
NM_001354867.2:c.703-573_703-572insT (TYMS) NP_001341796.1:n.703-573_703-572insT
NM_001354868.2:c.556-573_556-572insT (TYMS) NP_001341797.1:n.556-573_556-572insT
NM_202758.5:c.*2017_*2018insA (ENOSF1) NP_974487.2:n.*2017_*2018insA
NR_148706.2:n.2192_2193insA (ENOSF1)
NR_148707.2:n.2308_2309insA (ENOSF1)
NR_148708.2:n.2556_2557insA (ENOSF1)
NR_148709.2:n.2242_2243insA (ENOSF1)
NR_148710.2:n.2268_2269insA (ENOSF1)
NR_148711.2:n.2119_2120insA (ENOSF1)
NR_148712.2:n.2452_2453insA (ENOSF1)