Canonical Allele Identifier: CA625113217

Gene: AKAP10

Linked Data

• dbSNP Id: rs1253451239
• gnomAD v2: 17-19812544-CACTG-C
• gnomAD v3: 17-19909231-CACTG-C
• gnomAD v4: 17-19909231-CACTG-C
• COSMIC: COSM291732
• MyVariant Identifiers: chr17:g.19812545_19812548del (hg19) ; chr17:g.19909232_19909235del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19909235_19909238del , CM000679.2:g.19909235_19909238del	GRCh38
NC_000017.10:g.19812548_19812551del , CM000679.1:g.19812548_19812551del	GRCh37
NC_000017.9:g.19753140_19753143del	NCBI36
NG_011493.1:g.73582_73585del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225737.11:c.1929_1932del MANE Select	ENSP00000225737.6:p.Ser644ThrfsTer12
ENST00000225737.10:c.1929_1932del	ENSP00000225737.6:p.Ser644ThrfsTer12
ENST00000395536.7:c.1755_1758del	ENSP00000378907.3:p.Ser586ThrfsTer12
ENST00000578898.1:c.356_359del
NM_007202.3:c.1929_1932del	NP_009133.2:p.Ser644ThrfsTer12
XM_006721431.2:c.1835-3003_1835-3000del	XP_006721494.1:n.1835-3003_1835-3000del
XM_006721432.2:c.1755_1758del	XP_006721495.1:p.Ser586ThrfsTer12
XR_933969.1:n.1977_1980del
XR_933970.1:n.1883-3003_1883-3000del
NM_001330152.1:c.1755_1758del	NP_001317081.1:p.Ser586ThrfsTer12
XR_001752418.2:n.2041_2044del
XR_933969.3:n.1960_1963del
NM_007202.4:c.1929_1932del MANE Select	NP_009133.2:p.Ser644ThrfsTer12
NM_001330152.2:c.1755_1758del	NP_001317081.1:p.Ser586ThrfsTer12