Canonical Allele Identifier: CA1541387350

Gene: PRKAA1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40790444_40790446delinsCTA , CM000667.2:g.40790444_40790446delinsCTA	GRCh38
NC_000005.9:g.40790546_40790548delinsCTA , CM000667.1:g.40790546_40790548delinsCTA	GRCh37
NC_000005.8:g.40826303_40826305delinsCTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397128.7:c.127+7617_127+7619delinsTAG MANE Select	ENSP00000380317.2:n.127+7617_127+7619delinsTAG
ENST00000296800.4:c.100+7617_100+7619delinsTAG	ENSP00000296800.4:n.100+7617_100+7619delinsTAG
ENST00000354209.7:c.127+7617_127+7619delinsTAG	ENSP00000346148.3:n.127+7617_127+7619delinsTAG
ENST00000397006.2:n.108+7617_108+7619delinsTAG
ENST00000397128.6:c.127+7617_127+7619delinsTAG	ENSP00000380317.2:n.127+7617_127+7619delinsTAG
ENST00000506652.5:n.86+7617_86+7619delinsTAG
ENST00000509874.5:n.127+7617_127+7619delinsTAG
ENST00000511248.1:n.97+7617_97+7619delinsTAG
NM_006251.5:c.127+7617_127+7619delinsTAG	NP_006242.5:n.127+7617_127+7619delinsTAG
NM_206907.3:c.127+7617_127+7619delinsTAG	NP_996790.3:n.127+7617_127+7619delinsTAG
XM_006714482.1:c.-560+7617_-560+7619delinsTAG	XP_006714545.1:n.-560+7617_-560+7619delinsTAG
NM_001355028.1:c.-258+7617_-258+7619delinsTAG	NP_001341957.1:n.-258+7617_-258+7619delinsTAG
NM_001355029.1:c.-212+7617_-212+7619delinsTAG	NP_001341958.1:n.-212+7617_-212+7619delinsTAG
NM_001355034.1:c.127+7617_127+7619delinsTAG	NP_001341963.1:n.127+7617_127+7619delinsTAG
NM_001355035.1:c.-560+7617_-560+7619delinsTAG	NP_001341964.1:n.-560+7617_-560+7619delinsTAG
NM_001355036.1:c.-495+7617_-495+7619delinsTAG	NP_001341965.1:n.-495+7617_-495+7619delinsTAG
NM_001355037.1:c.-605+7617_-605+7619delinsTAG	NP_001341966.1:n.-605+7617_-605+7619delinsTAG
NM_001355028.2:c.-258+7617_-258+7619delinsTAG	NP_001341957.1:n.-258+7617_-258+7619delinsTAG
NM_001355029.2:c.-212+7617_-212+7619delinsTAG	NP_001341958.1:n.-212+7617_-212+7619delinsTAG
NM_001355035.2:c.-560+7617_-560+7619delinsTAG	NP_001341964.1:n.-560+7617_-560+7619delinsTAG
NM_001355036.2:c.-495+7617_-495+7619delinsTAG	NP_001341965.1:n.-495+7617_-495+7619delinsTAG
NM_001355037.2:c.-605+7617_-605+7619delinsTAG	NP_001341966.1:n.-605+7617_-605+7619delinsTAG
NM_001355034.2:c.127+7617_127+7619delinsTAG	NP_001341963.1:n.127+7617_127+7619delinsTAG
NM_006251.6:c.127+7617_127+7619delinsTAG MANE Select	NP_006242.5:n.127+7617_127+7619delinsTAG
NM_206907.4:c.127+7617_127+7619delinsTAG	NP_996790.3:n.127+7617_127+7619delinsTAG