Canonical Allele Identifier: CA559083128

Gene: PRKAA1

Linked Data

• dbSNP Id: rs1414066953
• gnomAD v2: 5-40790621-CTCTT-C
• gnomAD v3: 5-40790519-CTCTT-C
• gnomAD v4: 5-40790519-CTCTT-C
• MyVariant Identifiers: chr5:g.40790622_40790625del (hg19) ; chr5:g.40790520_40790523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40790525_40790528del , CM000667.2:g.40790525_40790528del	GRCh38
NC_000005.9:g.40790627_40790630del , CM000667.1:g.40790627_40790630del	GRCh37
NC_000005.8:g.40826384_40826387del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000397128.7:c.127+7540_127+7543del MANE Select	ENSP00000380317.2:n.127+7540_127+7543del
ENST00000296800.4:c.100+7540_100+7543del	ENSP00000296800.4:n.100+7540_100+7543del
ENST00000354209.7:c.127+7540_127+7543del	ENSP00000346148.3:n.127+7540_127+7543del
ENST00000397006.2:n.108+7540_108+7543del
ENST00000397128.6:c.127+7540_127+7543del	ENSP00000380317.2:n.127+7540_127+7543del
ENST00000506652.5:n.86+7540_86+7543del
ENST00000509874.5:n.127+7540_127+7543del
ENST00000511248.1:n.97+7540_97+7543del
NM_006251.5:c.127+7540_127+7543del	NP_006242.5:n.127+7540_127+7543del
NM_206907.3:c.127+7540_127+7543del	NP_996790.3:n.127+7540_127+7543del
XM_006714482.1:c.-560+7540_-560+7543del	XP_006714545.1:n.-560+7540_-560+7543del
NM_001355028.1:c.-258+7540_-258+7543del	NP_001341957.1:n.-258+7540_-258+7543del
NM_001355029.1:c.-212+7540_-212+7543del	NP_001341958.1:n.-212+7540_-212+7543del
NM_001355034.1:c.127+7540_127+7543del	NP_001341963.1:n.127+7540_127+7543del
NM_001355035.1:c.-560+7540_-560+7543del	NP_001341964.1:n.-560+7540_-560+7543del
NM_001355036.1:c.-495+7540_-495+7543del	NP_001341965.1:n.-495+7540_-495+7543del
NM_001355037.1:c.-605+7540_-605+7543del	NP_001341966.1:n.-605+7540_-605+7543del
NM_001355028.2:c.-258+7540_-258+7543del	NP_001341957.1:n.-258+7540_-258+7543del
NM_001355029.2:c.-212+7540_-212+7543del	NP_001341958.1:n.-212+7540_-212+7543del
NM_001355035.2:c.-560+7540_-560+7543del	NP_001341964.1:n.-560+7540_-560+7543del
NM_001355036.2:c.-495+7540_-495+7543del	NP_001341965.1:n.-495+7540_-495+7543del
NM_001355037.2:c.-605+7540_-605+7543del	NP_001341966.1:n.-605+7540_-605+7543del
NM_001355034.2:c.127+7540_127+7543del	NP_001341963.1:n.127+7540_127+7543del
NM_006251.6:c.127+7540_127+7543del MANE Select	NP_006242.5:n.127+7540_127+7543del
NM_206907.4:c.127+7540_127+7543del	NP_996790.3:n.127+7540_127+7543del