Canonical Allele Identifier: CA2739270558
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 2870459
ClinVar RCV Id: RCV003703281

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67483199_67483205del , CM000673.2:g.67483199_67483205del GRCh38
NC_000011.9:g.67250670_67250676del , CM000673.1:g.67250670_67250676del GRCh37
NC_000011.8:g.67007246_67007252del NCBI36
NG_008969.1:g.5166_5172del , LRG_460:g.5166_5172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.18_24del
ENST00000528641.7:c.41_47del ENSP00000434982.3:p.Gln14LeufsTer2
ENST00000682324.1:c.41_47del ENSP00000508017.1:p.Gln14LeufsTer2
ENST00000682659.1:c.41_47del ENSP00000507351.1:p.Gln14LeufsTer2
ENST00000682699.1:c.41_47del ENSP00000507935.1:p.Gln14LeufsTer2
ENST00000683237.1:c.41_47del ENSP00000507343.1:p.Gln14LeufsTer2
ENST00000684006.1:c.41_47del ENSP00000507269.1:p.Gln14LeufsTer2
ENST00000684657.1:c.41_47del ENSP00000507961.1:p.Gln14LeufsTer2
ENST00000279146.8:c.41_47del MANE Select ENSP00000279146.3:p.Gln14LeufsTer2
ENST00000279146.7:c.41_47del ENSP00000279146.3:p.Gln14LeufsTer2
ENST00000528641.6:c.41_47del ENSP00000434982.2:p.Gln14LeufsTer2
ENST00000529797.1:n.151_157del
NM_001302960.1:c.41_47del NP_001289889.1:p.Gln14LeufsTer2
NM_003977.3:c.41_47del NP_003968.3:p.Gln14LeufsTer2
XM_024448761.1:c.41_47del XP_024304529.1:p.Gln14LeufsTer2
NM_003977.4:c.41_47del MANE Select NP_003968.3:p.Gln14LeufsTer2
NM_001302960.2:c.41_47del NP_001289889.1:p.Gln14LeufsTer2