Canonical Allele Identifier: CA340306
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 4890
ClinVar RCV Id: RCV000005168
dbSNP Id: rs267606580
MyVariant Identifiers: chr11:g.67258295dupA (hg19) chr11:g.67490824dupA (hg38)
PubMed: PMID:17360484 PMID:22720333
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490824dup , CM000673.2:g.67490824dup GRCh38
NC_000011.9:g.67258295dup , CM000673.1:g.67258295dup GRCh37
NC_000011.8:g.67014871dup NCBI36
NG_008969.1:g.12791dup , LRG_460:g.12791dup

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.1131dup
ENST00000528641.7:c.635dup ENSP00000434982.3:p.His212GlnfsTer13
ENST00000529797.2:n.1666dup
ENST00000682324.1:c.469-173dup ENSP00000508017.1:n.469-173dup
ENST00000682659.1:c.455dup ENSP00000507351.1:p.His152GlnfsTer13
ENST00000682699.1:c.824dup ENSP00000507935.1:p.His275GlnfsTer13
ENST00000683237.1:c.816dup ENSP00000507343.1:p.Arg273ThrfsTer28
ENST00000683856.1:c.647dup ENSP00000507979.1:p.His216GlnfsTer13
ENST00000684006.1:c.813dup ENSP00000507269.1:p.Arg272ThrfsTer28
ENST00000684657.1:c.644dup ENSP00000507961.1:p.His215GlnfsTer13
ENST00000279146.8:c.824dup MANE Select ENSP00000279146.3:p.His275GlnfsTer13
ENST00000279146.7:c.824dup ENSP00000279146.3:p.His275GlnfsTer13
ENST00000528641.6:c.635dup ENSP00000434982.2:p.His212GlnfsTer13
NM_001302959.1:c.647dup NP_001289888.1:p.His216GlnfsTer13
NM_001302960.1:c.816dup NP_001289889.1:p.Arg273ThrfsTer28
NM_003977.3:c.824dup NP_003968.3:p.His275GlnfsTer13
XM_024448761.1:c.824dup XP_024304529.1:p.His275GlnfsTer13
NM_003977.4:c.824dup MANE Select NP_003968.3:p.His275GlnfsTer13
NM_001302960.2:c.816dup NP_001289889.1:p.Arg273ThrfsTer28
NM_001302959.2:c.647dup NP_001289888.1:p.His216GlnfsTer13
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