Canonical Allele Identifier: CA1541387227
Gene: PRKAA1 HGNC NCBI

Linked Data

dbSNP Id: rs1744662224

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40790310_40790312del , CM000667.2:g.40790310_40790312del GRCh38
NC_000005.9:g.40790412_40790414del , CM000667.1:g.40790412_40790414del GRCh37
NC_000005.8:g.40826169_40826171del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000397128.7:c.127+7754_127+7756del MANE Select ENSP00000380317.2:n.127+7754_127+7756del
ENST00000296800.4:c.100+7754_100+7756del ENSP00000296800.4:n.100+7754_100+7756del
ENST00000354209.7:c.127+7754_127+7756del ENSP00000346148.3:n.127+7754_127+7756del
ENST00000397006.2:n.108+7754_108+7756del
ENST00000397128.6:c.127+7754_127+7756del ENSP00000380317.2:n.127+7754_127+7756del
ENST00000506652.5:n.86+7754_86+7756del
ENST00000509874.5:n.127+7754_127+7756del
ENST00000511248.1:n.97+7754_97+7756del
NM_006251.5:c.127+7754_127+7756del NP_006242.5:n.127+7754_127+7756del
NM_206907.3:c.127+7754_127+7756del NP_996790.3:n.127+7754_127+7756del
XM_006714482.1:c.-560+7754_-560+7756del XP_006714545.1:n.-560+7754_-560+7756del
NM_001355028.1:c.-258+7754_-258+7756del NP_001341957.1:n.-258+7754_-258+7756del
NM_001355029.1:c.-212+7754_-212+7756del NP_001341958.1:n.-212+7754_-212+7756del
NM_001355034.1:c.127+7754_127+7756del NP_001341963.1:n.127+7754_127+7756del
NM_001355035.1:c.-560+7754_-560+7756del NP_001341964.1:n.-560+7754_-560+7756del
NM_001355036.1:c.-495+7754_-495+7756del NP_001341965.1:n.-495+7754_-495+7756del
NM_001355037.1:c.-605+7754_-605+7756del NP_001341966.1:n.-605+7754_-605+7756del
NM_001355028.2:c.-258+7754_-258+7756del NP_001341957.1:n.-258+7754_-258+7756del
NM_001355029.2:c.-212+7754_-212+7756del NP_001341958.1:n.-212+7754_-212+7756del
NM_001355035.2:c.-560+7754_-560+7756del NP_001341964.1:n.-560+7754_-560+7756del
NM_001355036.2:c.-495+7754_-495+7756del NP_001341965.1:n.-495+7754_-495+7756del
NM_001355037.2:c.-605+7754_-605+7756del NP_001341966.1:n.-605+7754_-605+7756del
NM_001355034.2:c.127+7754_127+7756del NP_001341963.1:n.127+7754_127+7756del
NM_006251.6:c.127+7754_127+7756del MANE Select NP_006242.5:n.127+7754_127+7756del
NM_206907.4:c.127+7754_127+7756del NP_996790.3:n.127+7754_127+7756del