Canonical Allele Identifier: CA1075368413
Gene: PRKAA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40790523_40790524dup , CM000667.2:g.40790523_40790524dup GRCh38
NC_000005.9:g.40790625_40790626dup , CM000667.1:g.40790625_40790626dup GRCh37
NC_000005.8:g.40826382_40826383dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000397128.7:c.127+7540_127+7541dup MANE Select ENSP00000380317.2:n.127+7540_127+7541dup
ENST00000296800.4:c.100+7540_100+7541dup ENSP00000296800.4:n.100+7540_100+7541dup
ENST00000354209.7:c.127+7540_127+7541dup ENSP00000346148.3:n.127+7540_127+7541dup
ENST00000397006.2:n.108+7540_108+7541dup
ENST00000397128.6:c.127+7540_127+7541dup ENSP00000380317.2:n.127+7540_127+7541dup
ENST00000506652.5:n.86+7540_86+7541dup
ENST00000509874.5:n.127+7540_127+7541dup
ENST00000511248.1:n.97+7540_97+7541dup
NM_006251.5:c.127+7540_127+7541dup NP_006242.5:n.127+7540_127+7541dup
NM_206907.3:c.127+7540_127+7541dup NP_996790.3:n.127+7540_127+7541dup
XM_006714482.1:c.-560+7540_-560+7541dup XP_006714545.1:n.-560+7540_-560+7541dup
NM_001355028.1:c.-258+7540_-258+7541dup NP_001341957.1:n.-258+7540_-258+7541dup
NM_001355029.1:c.-212+7540_-212+7541dup NP_001341958.1:n.-212+7540_-212+7541dup
NM_001355034.1:c.127+7540_127+7541dup NP_001341963.1:n.127+7540_127+7541dup
NM_001355035.1:c.-560+7540_-560+7541dup NP_001341964.1:n.-560+7540_-560+7541dup
NM_001355036.1:c.-495+7540_-495+7541dup NP_001341965.1:n.-495+7540_-495+7541dup
NM_001355037.1:c.-605+7540_-605+7541dup NP_001341966.1:n.-605+7540_-605+7541dup
NM_001355028.2:c.-258+7540_-258+7541dup NP_001341957.1:n.-258+7540_-258+7541dup
NM_001355029.2:c.-212+7540_-212+7541dup NP_001341958.1:n.-212+7540_-212+7541dup
NM_001355035.2:c.-560+7540_-560+7541dup NP_001341964.1:n.-560+7540_-560+7541dup
NM_001355036.2:c.-495+7540_-495+7541dup NP_001341965.1:n.-495+7540_-495+7541dup
NM_001355037.2:c.-605+7540_-605+7541dup NP_001341966.1:n.-605+7540_-605+7541dup
NM_001355034.2:c.127+7540_127+7541dup NP_001341963.1:n.127+7540_127+7541dup
NM_006251.6:c.127+7540_127+7541dup MANE Select NP_006242.5:n.127+7540_127+7541dup
NM_206907.4:c.127+7540_127+7541dup NP_996790.3:n.127+7540_127+7541dup