Canonical Allele Identifier: CA2662989858
Gene: ATIC HGNC NCBI

Linked Data

gnomAD v4: 2-215345345-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215345347del , CM000664.2:g.215345347del GRCh38
NC_000002.11:g.216210070del , CM000664.1:g.216210070del GRCh37
NC_000002.10:g.215918315del NCBI36
NG_013002.1:g.38392del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236959.14:c.1320+476del MANE Select ENSP00000236959.9:n.1320+476del
ENST00000236959.13:c.1320+476del ENSP00000236959.9:n.1320+476del
ENST00000426233.1:c.325+476del
ENST00000435675.5:c.1317+476del ENSP00000415935.1:n.1317+476del
ENST00000443953.5:c.*1417+476del ENSP00000406792.1:n.*1417+476del
ENST00000446622.5:n.400+476del
ENST00000459796.1:n.607del
ENST00000467388.1:n.232+476del
ENST00000479093.5:n.235+476del
NM_004044.6:c.1320+476del NP_004035.2:n.1320+476del
XM_017004187.2:c.1320+476del XP_016859676.1:n.1320+476del
XM_024452919.1:c.1143+476del XP_024308687.1:n.1143+476del
NM_004044.7:c.1320+476del MANE Select NP_004035.2:n.1320+476del
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