Canonical Allele Identifier: CA2251265489

Gene: AKAP10

Linked Data

• dbSNP Id: rs2042662306
• gnomAD v3: 17-19909040-AAT-A
• gnomAD v4: 17-19909040-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19909041_19909042del , CM000679.2:g.19909041_19909042del	GRCh38
NC_000017.10:g.19812354_19812355del , CM000679.1:g.19812354_19812355del	GRCh37
NC_000017.9:g.19752946_19752947del	NCBI36
NG_011493.1:g.73775_73776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225737.11:c.1983+139_1983+140del MANE Select	ENSP00000225737.6:n.1983+139_1983+140del
ENST00000225737.10:c.1983+139_1983+140del	ENSP00000225737.6:n.1983+139_1983+140del
ENST00000395536.7:c.1809+139_1809+140del	ENSP00000378907.3:n.1809+139_1809+140del
ENST00000578898.1:c.410+139_410+140del
NM_007202.3:c.1983+139_1983+140del	NP_009133.2:n.1983+139_1983+140del
XM_006721431.2:c.1835-2810_1835-2809del	XP_006721494.1:n.1835-2810_1835-2809del
XM_006721432.2:c.1809+139_1809+140del	XP_006721495.1:n.1809+139_1809+140del
XR_933969.1:n.2031+139_2031+140del
XR_933970.1:n.1883-2810_1883-2809del
NM_001330152.1:c.1809+139_1809+140del	NP_001317081.1:n.1809+139_1809+140del
XR_001752418.2:n.2095+139_2095+140del
XR_933969.3:n.2014+139_2014+140del
NM_007202.4:c.1983+139_1983+140del MANE Select	NP_009133.2:n.1983+139_1983+140del
NM_001330152.2:c.1809+139_1809+140del	NP_001317081.1:n.1809+139_1809+140del