Canonical Allele Identifier: CA1327331927
Gene: ATIC HGNC NCBI

Linked Data

dbSNP Id: rs2053060595
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215345346_215345349del , CM000664.2:g.215345346_215345349del GRCh38
NC_000002.11:g.216210069_216210072del , CM000664.1:g.216210069_216210072del GRCh37
NC_000002.10:g.215918314_215918317del NCBI36
NG_013002.1:g.38391_38394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236959.14:c.1320+475_1320+478del MANE Select ENSP00000236959.9:n.1320+475_1320+478del
ENST00000236959.13:c.1320+475_1320+478del ENSP00000236959.9:n.1320+475_1320+478del
ENST00000426233.1:c.325+475_325+478del
ENST00000435675.5:c.1317+475_1317+478del ENSP00000415935.1:n.1317+475_1317+478del
ENST00000443953.5:c.*1417+475_*1417+478del ENSP00000406792.1:n.*1417+475_*1417+478del
ENST00000446622.5:n.400+475_400+478del
ENST00000459796.1:n.606_609del
ENST00000467388.1:n.232+475_232+478del
ENST00000479093.5:n.235+475_235+478del
NM_004044.6:c.1320+475_1320+478del NP_004035.2:n.1320+475_1320+478del
XM_017004187.2:c.1320+475_1320+478del XP_016859676.1:n.1320+475_1320+478del
XM_024452919.1:c.1143+475_1143+478del XP_024308687.1:n.1143+475_1143+478del
NM_004044.7:c.1320+475_1320+478del MANE Select NP_004035.2:n.1320+475_1320+478del
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