Canonical Allele Identifier: CA810638099

Gene: PRKAA1

Linked Data

• dbSNP Id: rs1298127748
• gnomAD v3: 5-40790430-T-TATATTTTTGCTCCCA
• gnomAD v4: 5-40790430-T-TATATTTTTGCTCCCA
• MyVariant Identifiers: chr5:g.40790532_40790533insATATTTTTGCTCCCA (hg19) ; chr5:g.40790430_40790431insATATTTTTGCTCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40790430_40790431insATATTTTTGCTCCCA , CM000667.2:g.40790430_40790431insATATTTTTGCTCCCA	GRCh38
NC_000005.9:g.40790532_40790533insATATTTTTGCTCCCA , CM000667.1:g.40790532_40790533insATATTTTTGCTCCCA	GRCh37
NC_000005.8:g.40826289_40826290insATATTTTTGCTCCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397128.7:c.127+7632_127+7633insTGGGAGCAAAAATAT MANE Select	ENSP00000380317.2:n.127+7632_127+7633insTGGGAGCAAAAATAT
ENST00000296800.4:c.100+7632_100+7633insTGGGAGCAAAAATAT	ENSP00000296800.4:n.100+7632_100+7633insTGGGAGCAAAAATAT
ENST00000354209.7:c.127+7632_127+7633insTGGGAGCAAAAATAT	ENSP00000346148.3:n.127+7632_127+7633insTGGGAGCAAAAATAT
ENST00000397006.2:n.108+7632_108+7633insTGGGAGCAAAAATAT
ENST00000397128.6:c.127+7632_127+7633insTGGGAGCAAAAATAT	ENSP00000380317.2:n.127+7632_127+7633insTGGGAGCAAAAATAT
ENST00000506652.5:n.86+7632_86+7633insTGGGAGCAAAAATAT
ENST00000509874.5:n.127+7632_127+7633insTGGGAGCAAAAATAT
ENST00000511248.1:n.97+7632_97+7633insTGGGAGCAAAAATAT
NM_006251.5:c.127+7632_127+7633insTGGGAGCAAAAATAT	NP_006242.5:n.127+7632_127+7633insTGGGAGCAAAAATAT
NM_206907.3:c.127+7632_127+7633insTGGGAGCAAAAATAT	NP_996790.3:n.127+7632_127+7633insTGGGAGCAAAAATAT
XM_006714482.1:c.-560+7632_-560+7633insTGGGAGCAAAAATAT	XP_006714545.1:n.-560+7632_-560+7633insTGGGAGCAAAAATAT
NM_001355028.1:c.-258+7632_-258+7633insTGGGAGCAAAAATAT	NP_001341957.1:n.-258+7632_-258+7633insTGGGAGCAAAAATAT
NM_001355029.1:c.-212+7632_-212+7633insTGGGAGCAAAAATAT	NP_001341958.1:n.-212+7632_-212+7633insTGGGAGCAAAAATAT
NM_001355034.1:c.127+7632_127+7633insTGGGAGCAAAAATAT	NP_001341963.1:n.127+7632_127+7633insTGGGAGCAAAAATAT
NM_001355035.1:c.-560+7632_-560+7633insTGGGAGCAAAAATAT	NP_001341964.1:n.-560+7632_-560+7633insTGGGAGCAAAAATAT
NM_001355036.1:c.-495+7632_-495+7633insTGGGAGCAAAAATAT	NP_001341965.1:n.-495+7632_-495+7633insTGGGAGCAAAAATAT
NM_001355037.1:c.-605+7632_-605+7633insTGGGAGCAAAAATAT	NP_001341966.1:n.-605+7632_-605+7633insTGGGAGCAAAAATAT
NM_001355028.2:c.-258+7632_-258+7633insTGGGAGCAAAAATAT	NP_001341957.1:n.-258+7632_-258+7633insTGGGAGCAAAAATAT
NM_001355029.2:c.-212+7632_-212+7633insTGGGAGCAAAAATAT	NP_001341958.1:n.-212+7632_-212+7633insTGGGAGCAAAAATAT
NM_001355035.2:c.-560+7632_-560+7633insTGGGAGCAAAAATAT	NP_001341964.1:n.-560+7632_-560+7633insTGGGAGCAAAAATAT
NM_001355036.2:c.-495+7632_-495+7633insTGGGAGCAAAAATAT	NP_001341965.1:n.-495+7632_-495+7633insTGGGAGCAAAAATAT
NM_001355037.2:c.-605+7632_-605+7633insTGGGAGCAAAAATAT	NP_001341966.1:n.-605+7632_-605+7633insTGGGAGCAAAAATAT
NM_001355034.2:c.127+7632_127+7633insTGGGAGCAAAAATAT	NP_001341963.1:n.127+7632_127+7633insTGGGAGCAAAAATAT
NM_006251.6:c.127+7632_127+7633insTGGGAGCAAAAATAT MANE Select	NP_006242.5:n.127+7632_127+7633insTGGGAGCAAAAATAT
NM_206907.4:c.127+7632_127+7633insTGGGAGCAAAAATAT	NP_996790.3:n.127+7632_127+7633insTGGGAGCAAAAATAT