Canonical Allele Identifier: CA1327322060

Gene: ATIC

Linked Data

• dbSNP Id: rs2052809687
• gnomAD v4: 2-215325215-C-CAGCCAGATTCGTCTTTGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215325217_215325237dup , CM000664.2:g.215325217_215325237dup	GRCh38
NC_000002.11:g.216189940_216189960dup , CM000664.1:g.216189940_216189960dup	GRCh37
NC_000002.10:g.215898185_215898205dup	NCBI36
NG_013002.1:g.18262_18282dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000236959.14:c.291-24_291-4dup MANE Select	ENSP00000236959.9:n.291-24_291-4dup
ENST00000236959.13:c.291-24_291-4dup	ENSP00000236959.9:n.291-24_291-4dup
ENST00000413174.1:c.114-24_114-4dup	ENSP00000402393.1:n.114-24_114-4dup
ENST00000427397.5:c.*341-24_*341-4dup	ENSP00000394317.1:n.*341-24_*341-4dup
ENST00000435675.5:c.288-24_288-4dup	ENSP00000415935.1:n.288-24_288-4dup
ENST00000443953.5:c.*388-24_*388-4dup	ENSP00000406792.1:n.*388-24_*388-4dup
ENST00000444305.5:c.224-24_224-4dup	ENSP00000388675.1:n.224-24_224-4dup
ENST00000488712.5:n.479_499dup
NM_004044.6:c.291-24_291-4dup	NP_004035.2:n.291-24_291-4dup
XM_017004187.2:c.291-24_291-4dup	XP_016859676.1:n.291-24_291-4dup
XM_024452919.1:c.114-24_114-4dup	XP_024308687.1:n.114-24_114-4dup
NM_004044.7:c.291-24_291-4dup MANE Select	NP_004035.2:n.291-24_291-4dup