Canonical Allele Identifier: CA2808070167
Gene: APRT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88809969_88809970dup , CM000678.2:g.88809969_88809970dup GRCh38
NC_000016.9:g.88876377_88876378dup , CM000678.1:g.88876377_88876378dup GRCh37
NC_000016.8:g.87403878_87403879dup NCBI36
NG_008013.1:g.6967_6968dup
NG_028266.1:g.11192_11193dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378364.8:c.400+102_400+103dup MANE Select ENSP00000367615.3:n.400+102_400+103dup
ENST00000378364.7:c.400+102_400+103dup ENSP00000367615.3:n.400+102_400+103dup
ENST00000426324.6:c.400+102_400+103dup ENSP00000397007.2:n.400+102_400+103dup
ENST00000562464.1:n.410+102_410+103dup
ENST00000563655.5:c.319+102_319+103dup ENSP00000456012.1:n.319+102_319+103dup
ENST00000567057.5:n.199+102_199+103dup
ENST00000567391.5:c.*74+102_*74+103dup ENSP00000457964.1:n.*74+102_*74+103dup
ENST00000567713.5:c.322-433_322-432dup ENSP00000455749.1:n.322-433_322-432dup
ENST00000568319.5:c.*74+102_*74+103dup ENSP00000456905.1:n.*74+102_*74+103dup
ENST00000568575.1:n.329+102_329+103dup
ENST00000569616.1:c.399-61_399-60dup
NM_000485.2:c.400+102_400+103dup NP_000476.1:n.400+102_400+103dup
NM_001030018.1:c.400+102_400+103dup NP_001025189.1:n.400+102_400+103dup
NM_000485.3:c.400+102_400+103dup MANE Select NP_000476.1:n.400+102_400+103dup
NM_001030018.2:c.400+102_400+103dup NP_001025189.1:n.400+102_400+103dup