Canonical Allele Identifier: CA2634887484

Gene: APRT

Linked Data

• gnomAD v4: 16-88810258-CCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810262_88810265del , CM000678.2:g.88810262_88810265del	GRCh38
NC_000016.9:g.88876670_88876673del , CM000678.1:g.88876670_88876673del	GRCh37
NC_000016.8:g.87404171_87404174del	NCBI36
NG_008013.1:g.6673_6676del
NG_028266.1:g.11485_11488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.322-114_322-111del MANE Select	ENSP00000367615.3:n.322-114_322-111del
ENST00000378364.7:c.322-114_322-111del	ENSP00000367615.3:n.322-114_322-111del
ENST00000426324.6:c.322-114_322-111del	ENSP00000397007.2:n.322-114_322-111del
ENST00000562464.1:n.332-114_332-111del
ENST00000563655.5:c.241-114_241-111del	ENSP00000456012.1:n.241-114_241-111del
ENST00000567057.5:n.7_10del
ENST00000567391.5:c.188-114_188-111del	ENSP00000457964.1:n.188-114_188-111del
ENST00000567713.5:c.321+161_321+164del	ENSP00000455749.1:n.321+161_321+164del
ENST00000568319.5:c.188-114_188-111del	ENSP00000456905.1:n.188-114_188-111del
ENST00000568575.1:n.137_140del
ENST00000569616.1:c.320-114_320-111del
NM_000485.2:c.322-114_322-111del	NP_000476.1:n.322-114_322-111del
NM_001030018.1:c.322-114_322-111del	NP_001025189.1:n.322-114_322-111del
NM_000485.3:c.322-114_322-111del MANE Select	NP_000476.1:n.322-114_322-111del
NM_001030018.2:c.322-114_322-111del	NP_001025189.1:n.322-114_322-111del