Canonical Allele Identifier: CA689275150
Community Standard Title: NM_001278309.2(AKAP3):c.2286_2287del (p.His762GlnfsTer22)
Gene: AKAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4626617_4626618del , CM000674.2:g.4626617_4626618del GRCh38
NC_000012.11:g.4735783_4735784del , CM000674.1:g.4735783_4735784del GRCh37
NC_000012.10:g.4606044_4606045del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001278309.2:c.2286_2287del MANE Select NP_001265238.2:p.His762GlnfsTer22
ENST00000228850.6:c.2286_2287del MANE Select ENSP00000228850.1:p.His762GlnfsTer22
NM_001278309.1:c.2286_2287del NP_001265238.1:p.His762GlnfsTer22
NM_006422.3:c.2286_2287del NP_006413.3:p.His762GlnfsTer22
NM_006422.4:c.2286_2287del NP_006413.4:p.His762GlnfsTer22
ENST00000228850.5:c.2286_2287del ENSP00000228850.1:p.His762GlnfsTer22
ENST00000536588.1:c.144-4705_144-4704del
ENST00000545990.6:c.2286_2287del ENSP00000440994.1:p.His762GlnfsTer22
XM_005253664.2:c.2286_2287del XP_005253721.1:p.His762GlnfsTer22
XM_011520908.1:c.2286_2287del XP_011519210.1:p.His762GlnfsTer22
XM_011520909.1:c.2286_2287del XP_011519211.1:p.His762GlnfsTer22
XM_011520909.2:c.2286_2287del XP_011519211.1:p.His762GlnfsTer22
XM_011520910.1:c.2286_2287del XP_011519212.1:p.His762GlnfsTer22
XM_011520910.2:c.2286_2287del XP_011519212.1:p.His762GlnfsTer22
XM_024448797.1:c.2286_2287del XP_024304565.1:p.His762GlnfsTer22