Canonical Allele Identifier: CA344214
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41215
ClinVar RCV Id: RCV003343605 RCV003764656
dbSNP Id: rs267606589
MyVariant Identifiers: chr11:g.67258390dupC (hg19) chr11:g.67490919dupC (hg38)
PubMed: PMID:22720333
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490919dup , CM000673.2:g.67490919dup GRCh38
NC_000011.9:g.67258390dup , CM000673.1:g.67258390dup GRCh37
NC_000011.8:g.67014966dup NCBI36
NG_008969.1:g.12886dup , LRG_460:g.12886dup

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.1226dup
ENST00000528641.7:c.730dup ENSP00000434982.3:p.Arg244ProfsTer?
ENST00000529797.2:n.1761dup
ENST00000682324.1:c.469-78dup ENSP00000508017.1:n.469-78dup
ENST00000682659.1:c.550dup ENSP00000507351.1:p.Arg184ProfsTer?
ENST00000682699.1:c.919dup ENSP00000507935.1:p.Arg307ProfsTer?
ENST00000683237.1:c.*59dup ENSP00000507343.1:n.*59dup
ENST00000683856.1:c.742dup ENSP00000507979.1:p.Arg248ProfsTer?
ENST00000684006.1:c.*59dup ENSP00000507269.1:n.*59dup
ENST00000684657.1:c.739dup ENSP00000507961.1:p.Arg247ProfsTer?
ENST00000279146.8:c.919dup MANE Select ENSP00000279146.3:p.Arg307ProfsTer?
ENST00000279146.7:c.919dup ENSP00000279146.3:p.Arg307ProfsTer?
NM_001302959.1:c.742dup NP_001289888.1:p.Arg248ProfsTer?
NM_001302960.1:c.*59dup NP_001289889.1:n.*59dup
NM_003977.3:c.919dup NP_003968.3:p.Arg307ProfsTer?
XM_024448761.1:c.919dup XP_024304529.1:p.Arg307ProfsTer?
NM_003977.4:c.919dup MANE Select NP_003968.3:p.Arg307ProfsTer?
NM_001302960.2:c.*59dup NP_001289889.1:n.*59dup
NM_001302959.2:c.742dup NP_001289888.1:p.Arg248ProfsTer?
Search 100 bp 5'
Search 100 bp 3'