Canonical Allele Identifier: CA344209
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41213
ClinVar RCV Id: RCV000034112
dbSNP Id: rs267606582

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490854_67490857del , CM000673.2:g.67490854_67490857del GRCh38
NC_000011.9:g.67258325_67258328del , CM000673.1:g.67258325_67258328del GRCh37
NC_000011.8:g.67014901_67014904del NCBI36
NG_008969.1:g.12821_12824del , LRG_460:g.12821_12824del

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.1161_1164del
ENST00000528641.7:c.665_668del ENSP00000434982.3:p.Gln222LeufsTer17
ENST00000529797.2:n.1696_1699del
ENST00000682324.1:c.469-143_469-140del ENSP00000508017.1:n.469-143_469-140del
ENST00000682659.1:c.485_488del ENSP00000507351.1:p.Gln162LeufsTer17
ENST00000682699.1:c.854_857del ENSP00000507935.1:p.Gln285LeufsTer17
ENST00000683237.1:c.846_849del ENSP00000507343.1:p.Gly283AspfsTer?
ENST00000683856.1:c.677_680del ENSP00000507979.1:p.Gln226LeufsTer17
ENST00000684006.1:c.843_846del ENSP00000507269.1:p.Gly282AspfsTer?
ENST00000684657.1:c.674_677del ENSP00000507961.1:p.Gln225LeufsTer17
ENST00000279146.8:c.854_857del MANE Select ENSP00000279146.3:p.Gln285LeufsTer17
ENST00000279146.7:c.854_857del ENSP00000279146.3:p.Gln285LeufsTer17
ENST00000528641.6:c.665_668del ENSP00000434982.2:p.Gln222LeufsTer?
NM_001302959.1:c.677_680del NP_001289888.1:p.Gln226LeufsTer17
NM_001302960.1:c.846_849del NP_001289889.1:p.Gly283AspfsTer?
NM_003977.3:c.854_857del NP_003968.3:p.Gln285LeufsTer17
XM_024448761.1:c.854_857del XP_024304529.1:p.Gln285LeufsTer17
NM_003977.4:c.854_857del MANE Select NP_003968.3:p.Gln285LeufsTer17
NM_001302960.2:c.846_849del NP_001289889.1:p.Gly283AspfsTer?
NM_001302959.2:c.677_680del NP_001289888.1:p.Gln226LeufsTer17