Canonical Allele Identifier: CA539535739

Gene: ATIC

Linked Data

• dbSNP Id: rs1303310348
• gnomAD v2: 2-216209039-TAGG-T
• MyVariant Identifiers: chr2:g.216209040_216209042del (hg19) ; chr2:g.215344317_215344319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215344319_215344321del , CM000664.2:g.215344319_215344321del	GRCh38
NC_000002.11:g.216209042_216209044del , CM000664.1:g.216209042_216209044del	GRCh37
NC_000002.10:g.215917287_215917289del	NCBI36
NG_013002.1:g.37364_37366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236959.14:c.1228-460_1228-458del MANE Select	ENSP00000236959.9:n.1228-460_1228-458del
ENST00000236959.13:c.1228-460_1228-458del	ENSP00000236959.9:n.1228-460_1228-458del
ENST00000426233.1:c.233-460_233-458del
ENST00000435675.5:c.1225-460_1225-458del	ENSP00000415935.1:n.1225-460_1225-458del
ENST00000443953.5:c.*1325-460_*1325-458del	ENSP00000406792.1:n.*1325-460_*1325-458del
ENST00000446622.5:n.308-460_308-458del
ENST00000459796.1:n.39-460_39-458del
ENST00000467388.1:n.140-460_140-458del
ENST00000479093.5:n.143-460_143-458del
NM_004044.6:c.1228-460_1228-458del	NP_004035.2:n.1228-460_1228-458del
XM_017004187.2:c.1228-460_1228-458del	XP_016859676.1:n.1228-460_1228-458del
XM_024452919.1:c.1051-460_1051-458del	XP_024308687.1:n.1051-460_1051-458del
NM_004044.7:c.1228-460_1228-458del MANE Select	NP_004035.2:n.1228-460_1228-458del