Canonical Allele Identifier: CA10414109

Gene: AKAP4

Linked Data

• dbSNP Id: rs781974728
• ExAC: X:49956925 TTTC / T
• gnomAD v2: X-49956925-TTTC-T
• gnomAD v3: X-50192274-TTTC-T
• gnomAD v4: X-50192274-TTTC-T
• MyVariant Identifiers: chrX:g.49956926_49956928del (hg19) ; chrX:g.50192275_50192277del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50192280_50192282del , CM000685.2:g.50192280_50192282del	GRCh38
NC_000023.10:g.49956931_49956933del , CM000685.1:g.49956931_49956933del	GRCh37
NC_000023.9:g.49843671_49843673del	NCBI36
NG_012552.1:g.13737_13739del
NG_012552.2:g.13737_13739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358526.7:c.2409+27_2409+29del MANE Select	ENSP00000351327.2:n.2409+27_2409+29del
ENST00000358526.6:c.2409+27_2409+29del	ENSP00000351327.2:n.2409+27_2409+29del
ENST00000376064.7:c.2382+27_2382+29del	ENSP00000365232.3:n.2382+27_2382+29del
ENST00000481402.5:n.2521+27_2521+29del
NM_003886.2:c.2409+27_2409+29del	NP_003877.2:n.2409+27_2409+29del
NM_139289.1:c.2382+27_2382+29del	NP_647450.1:n.2382+27_2382+29del
NM_003886.3:c.2409+27_2409+29del MANE Select	NP_003877.2:n.2409+27_2409+29del
NM_139289.2:c.2382+27_2382+29del	NP_647450.1:n.2382+27_2382+29del