Canonical Allele Identifier: CA1075368307

Gene: PRKAA1

Linked Data

• dbSNP Id: rs1744661330
• gnomAD v3: 5-40790282-C-CTA
• gnomAD v4: 5-40790282-C-CTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40790283_40790284dup , CM000667.2:g.40790283_40790284dup	GRCh38
NC_000005.9:g.40790385_40790386dup , CM000667.1:g.40790385_40790386dup	GRCh37
NC_000005.8:g.40826142_40826143dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397128.7:c.127+7779_127+7780dup MANE Select	ENSP00000380317.2:n.127+7779_127+7780dup
ENST00000296800.4:c.100+7779_100+7780dup	ENSP00000296800.4:n.100+7779_100+7780dup
ENST00000354209.7:c.127+7779_127+7780dup	ENSP00000346148.3:n.127+7779_127+7780dup
ENST00000397006.2:n.108+7779_108+7780dup
ENST00000397128.6:c.127+7779_127+7780dup	ENSP00000380317.2:n.127+7779_127+7780dup
ENST00000506652.5:n.86+7779_86+7780dup
ENST00000509874.5:n.127+7779_127+7780dup
ENST00000511248.1:n.97+7779_97+7780dup
NM_006251.5:c.127+7779_127+7780dup	NP_006242.5:n.127+7779_127+7780dup
NM_206907.3:c.127+7779_127+7780dup	NP_996790.3:n.127+7779_127+7780dup
XM_006714482.1:c.-560+7779_-560+7780dup	XP_006714545.1:n.-560+7779_-560+7780dup
NM_001355028.1:c.-258+7779_-258+7780dup	NP_001341957.1:n.-258+7779_-258+7780dup
NM_001355029.1:c.-212+7779_-212+7780dup	NP_001341958.1:n.-212+7779_-212+7780dup
NM_001355034.1:c.127+7779_127+7780dup	NP_001341963.1:n.127+7779_127+7780dup
NM_001355035.1:c.-560+7779_-560+7780dup	NP_001341964.1:n.-560+7779_-560+7780dup
NM_001355036.1:c.-495+7779_-495+7780dup	NP_001341965.1:n.-495+7779_-495+7780dup
NM_001355037.1:c.-605+7779_-605+7780dup	NP_001341966.1:n.-605+7779_-605+7780dup
NM_001355028.2:c.-258+7779_-258+7780dup	NP_001341957.1:n.-258+7779_-258+7780dup
NM_001355029.2:c.-212+7779_-212+7780dup	NP_001341958.1:n.-212+7779_-212+7780dup
NM_001355035.2:c.-560+7779_-560+7780dup	NP_001341964.1:n.-560+7779_-560+7780dup
NM_001355036.2:c.-495+7779_-495+7780dup	NP_001341965.1:n.-495+7779_-495+7780dup
NM_001355037.2:c.-605+7779_-605+7780dup	NP_001341966.1:n.-605+7779_-605+7780dup
NM_001355034.2:c.127+7779_127+7780dup	NP_001341963.1:n.127+7779_127+7780dup
NM_006251.6:c.127+7779_127+7780dup MANE Select	NP_006242.5:n.127+7779_127+7780dup
NM_206907.4:c.127+7779_127+7780dup	NP_996790.3:n.127+7779_127+7780dup