Canonical Allele Identifier: CA344192
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41208
dbSNP Id: rs267606578

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490805_67490825dup , CM000673.2:g.67490805_67490825dup GRCh38
NC_000011.9:g.67258276_67258296dup , CM000673.1:g.67258276_67258296dup GRCh37
NC_000011.8:g.67014852_67014872dup NCBI36
NG_008969.1:g.12772_12792dup , LRG_460:g.12772_12792dup

Transcript Alleles

HGVS Amino-acid change
ENST00000279146.8:c.805_825dup MANE Select ENSP00000279146.3:p.His275_Ala276insPheLy...
ENST00000279146.7:c.805_825dup ENSP00000279146.3:p.His275_Ala276insPheLy...
ENST00000528641.6:c.616_636dup ENSP00000434982.2:p.His212_Ala213insPheLy...
NM_001302959.1:c.628_648dup NP_001289888.1:p.His216_Ala217insPheLysAr...
NM_001302960.1:c.797_817dup NP_001289889.1:p.Pro272_Arg273insLeuGlnAl...
NM_003977.3:c.805_825dup NP_003968.3:p.His275_Ala276insPheLysArgGl...
XM_024448761.1:c.805_825dup XP_024304529.1:p.His275_Ala276insPheLysAr...
NM_003977.4:c.805_825dup MANE Select NP_003968.3:p.His275_Ala276insPheLysArgGl...
NM_001302960.2:c.797_817dup NP_001289889.1:p.Pro272_Arg273insLeuGlnAl...
NM_001302959.2:c.628_648dup NP_001289888.1:p.His216_Ala217insPheLysAr...