Canonical Allele Identifier: CA980350487

Gene: APRT

Linked Data

• dbSNP Id: rs1909052326
• gnomAD v3: 16-88810021-CCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTA-C
• gnomAD v4: 16-88810021-CCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810029_88810075del , CM000678.2:g.88810029_88810075del	GRCh38
NC_000016.9:g.88876437_88876483del , CM000678.1:g.88876437_88876483del	GRCh37
NC_000016.8:g.87403938_87403984del	NCBI36
NG_008013.1:g.6867_6913del
NG_028266.1:g.11252_11298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.400+2_400+48del
ENST00000378364.7:c.400+2_400+48del
ENST00000426324.6:c.400+2_400+48del
ENST00000562464.1:n.410+2_410+48del
ENST00000563655.5:c.319+2_319+48del
ENST00000567057.5:n.199+2_199+48del
ENST00000567391.5:c.*74+2_*74+48del
ENST00000567713.5:c.321+355_321+401del	ENSP00000455749.1:n.321+355_321+401del
ENST00000568319.5:c.*74+2_*74+48del
ENST00000568575.1:n.329+2_329+48del
ENST00000569616.1:c.398+2_398+48del
NM_000485.2:c.400+2_400+48del
NM_001030018.1:c.400+2_400+48del
NM_000485.3:c.400+2_400+48del
NM_001030018.2:c.400+2_400+48del