Canonical Allele Identifier: CA2634887223

Gene: APRT

Linked Data

• gnomAD v4: 16-88809986-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809987_88809988del , CM000678.2:g.88809987_88809988del	GRCh38
NC_000016.9:g.88876395_88876396del , CM000678.1:g.88876395_88876396del	GRCh37
NC_000016.8:g.87403896_87403897del	NCBI36
NG_008013.1:g.6947_6948del
NG_028266.1:g.11210_11211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.400+82_400+83del MANE Select	ENSP00000367615.3:n.400+82_400+83del
ENST00000378364.7:c.400+82_400+83del	ENSP00000367615.3:n.400+82_400+83del
ENST00000426324.6:c.400+82_400+83del	ENSP00000397007.2:n.400+82_400+83del
ENST00000562464.1:n.410+82_410+83del
ENST00000563655.5:c.319+82_319+83del	ENSP00000456012.1:n.319+82_319+83del
ENST00000567057.5:n.199+82_199+83del
ENST00000567391.5:c.*74+82_*74+83del	ENSP00000457964.1:n.*74+82_*74+83del
ENST00000567713.5:c.321+435_321+436del	ENSP00000455749.1:n.321+435_321+436del
ENST00000568319.5:c.*74+82_*74+83del	ENSP00000456905.1:n.*74+82_*74+83del
ENST00000568575.1:n.329+82_329+83del
ENST00000569616.1:c.399-81_399-80del
NM_000485.2:c.400+82_400+83del	NP_000476.1:n.400+82_400+83del
NM_001030018.1:c.400+82_400+83del	NP_001025189.1:n.400+82_400+83del
NM_000485.3:c.400+82_400+83del MANE Select	NP_000476.1:n.400+82_400+83del
NM_001030018.2:c.400+82_400+83del	NP_001025189.1:n.400+82_400+83del