Canonical Allele Identifier: CA340307
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 4891
ClinVar RCV Id: RCV000005169
dbSNP Id: rs267606559
MyVariant Identifiers: chr11:g.67257582del (hg19) chr11:g.67490111del (hg38)
PubMed: PMID:17360484 PMID:22720333
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490112del , CM000673.2:g.67490112del GRCh38
NC_000011.9:g.67257583del , CM000673.1:g.67257583del GRCh37
NC_000011.8:g.67014159del NCBI36
NG_008969.1:g.12079del , LRG_460:g.12079del

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.520del
ENST00000528641.7:c.354del ENSP00000434982.3:p.Ile119SerfsTer14
ENST00000529797.2:n.1055del
ENST00000682324.1:c.468+657del ENSP00000508017.1:n.468+657del
ENST00000682659.1:c.174del ENSP00000507351.1:p.Ile59SerfsTer14
ENST00000682699.1:c.543del ENSP00000507935.1:p.Ile182SerfsTer14
ENST00000683237.1:c.543del ENSP00000507343.1:p.Ile182SerfsTer14
ENST00000683856.1:c.366del ENSP00000507979.1:p.Ile123SerfsTer14
ENST00000684006.1:c.543del ENSP00000507269.1:p.Ile182SerfsTer14
ENST00000684657.1:c.363del ENSP00000507961.1:p.Ile122SerfsTer14
ENST00000279146.8:c.543del MANE Select ENSP00000279146.3:p.Ile182SerfsTer14
ENST00000279146.7:c.543del ENSP00000279146.3:p.Ile182SerfsTer14
ENST00000525341.1:c.195del ENSP00000476993.1:p.Ile66SerfsTer14
ENST00000528641.6:c.354del ENSP00000434982.2:p.Ile119SerfsTer14
NM_001302959.1:c.366del NP_001289888.1:p.Ile123SerfsTer14
NM_001302960.1:c.543del NP_001289889.1:p.Ile182SerfsTer14
NM_003977.3:c.543del NP_003968.3:p.Ile182SerfsTer14
XM_024448761.1:c.543del XP_024304529.1:p.Ile182SerfsTer14
NM_003977.4:c.543del MANE Select NP_003968.3:p.Ile182SerfsTer14
NM_001302960.2:c.543del NP_001289889.1:p.Ile182SerfsTer14
NM_001302959.2:c.366del NP_001289888.1:p.Ile123SerfsTer14
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