Canonical Allele Identifier: CA10628341
Gene: AGK HGNC NCBI
DENND11 HGNC NCBI

Linked Data

ClinVar Variation Id: 359087
ClinVar RCV Id: RCV000345767 RCV000402583
dbSNP Id: rs886062030
gnomAD v2: 7-141354051-GTTTT-G
gnomAD v3: 7-141654251-GTTTT-G
gnomAD v4: 7-141654251-GTTTT-G
MyVariant Identifiers: chr7:g.141354055_141354058del (hg19) chr7:g.141354052_141354055del (hg19) chr7:g.141654255_141654258del (hg38) chr7:g.141654252_141654255del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141654255_141654258del , CM000669.2:g.141654255_141654258del GRCh38
NC_000007.13:g.141354055_141354058del , CM000669.1:g.141354055_141354058del GRCh37
NC_000007.12:g.141000524_141000527del NCBI36
NG_032079.1:g.107978_107981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649286.2:c.*1331_*1334del (AGK) MANE Select ENSP00000497280.1:n.*1331_*1334del
ENST00000355413.8:c.*1331_*1334del (AGK) ENSP00000347581.4:n.*1331_*1334del
ENST00000629555.2:c.*1705_*1708del (AGK) ENSP00000487274.1:n.*1705_*1708del
NM_018238.3:c.*1331_*1334del (AGK) NP_060708.1:n.*1331_*1334del
XM_011516397.1:c.*1331_*1334del (AGK) XP_011514699.1:n.*1331_*1334del
NM_018238.4:c.*1331_*1334del (AGK) MANE Select NP_060708.1:n.*1331_*1334del
XM_011516397.3:c.*1331_*1334del (AGK) XP_011514699.1:n.*1331_*1334del
XM_024446835.1:c.*1331_*1334del (AGK) XP_024302603.1:n.*1331_*1334del
XR_001744838.1:n.7516-1372_7516-1369del (DENND11)
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