Canonical Allele Identifier: CA344079
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41168
ClinVar RCV Id: RCV000034067
dbSNP Id: rs267606542

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487151_67487155del , CM000673.2:g.67487151_67487155del GRCh38
NC_000011.9:g.67254622_67254626del , CM000673.1:g.67254622_67254626del GRCh37
NC_000011.8:g.67011198_67011202del NCBI36
NG_008969.1:g.9118_9122del , LRG_460:g.9118_9122del

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.222_226del
ENST00000528641.7:c.245_249del ENSP00000434982.3:p.Glu82GlyfsTer8
ENST00000529797.2:n.175_179del
ENST00000682324.1:c.245_249del ENSP00000508017.1:p.Glu82GlyfsTer8
ENST00000682659.1:c.100-2887_100-2883del ENSP00000507351.1:n.100-2887_100-2883del
ENST00000682699.1:c.245_249del ENSP00000507935.1:p.Glu82GlyfsTer8
ENST00000683237.1:c.245_249del ENSP00000507343.1:p.Glu82GlyfsTer8
ENST00000683856.1:c.68_72del ENSP00000507979.1:p.Glu23GlyfsTer8
ENST00000684006.1:c.245_249del ENSP00000507269.1:p.Glu82GlyfsTer8
ENST00000684657.1:c.100-2116_100-2112del ENSP00000507961.1:n.100-2116_100-2112del
ENST00000279146.8:c.245_249del MANE Select ENSP00000279146.3:p.Glu82GlyfsTer8
ENST00000279146.7:c.245_249del ENSP00000279146.3:p.Glu82GlyfsTer8
ENST00000528641.6:c.245_249del ENSP00000434982.2:p.Glu82GlyfsTer8
ENST00000529797.1:n.355_359del
NM_001302959.1:c.68_72del NP_001289888.1:p.Glu23GlyfsTer8
NM_001302960.1:c.245_249del NP_001289889.1:p.Glu82GlyfsTer8
NM_003977.3:c.245_249del NP_003968.3:p.Glu82GlyfsTer8
XM_024448761.1:c.245_249del XP_024304529.1:p.Glu82GlyfsTer8
NM_003977.4:c.245_249del MANE Select NP_003968.3:p.Glu82GlyfsTer8
NM_001302960.2:c.245_249del NP_001289889.1:p.Glu82GlyfsTer8
NM_001302959.2:c.68_72del NP_001289888.1:p.Glu23GlyfsTer8