Canonical Allele Identifier: CA2580084735
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 2000375
ClinVar RCV Id: RCV002797371

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490210_67490212del , CM000673.2:g.67490210_67490212del GRCh38
NC_000011.9:g.67257681_67257683del , CM000673.1:g.67257681_67257683del GRCh37
NC_000011.8:g.67014257_67014259del NCBI36
NG_008969.1:g.12177_12179del , LRG_460:g.12177_12179del

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.618_620del
ENST00000528641.7:c.452_454del ENSP00000434982.3:p.Met151del
ENST00000529797.2:n.1153_1155del
ENST00000682324.1:c.468+755_468+757del ENSP00000508017.1:n.468+755_468+757del
ENST00000682659.1:c.272_274del ENSP00000507351.1:p.Met91del
ENST00000682699.1:c.641_643del ENSP00000507935.1:p.Met214del
ENST00000683237.1:c.641_643del ENSP00000507343.1:p.Met214del
ENST00000683856.1:c.464_466del ENSP00000507979.1:p.Met155del
ENST00000684006.1:c.641_643del ENSP00000507269.1:p.Met214del
ENST00000684657.1:c.461_463del ENSP00000507961.1:p.Met154del
ENST00000279146.8:c.641_643del MANE Select ENSP00000279146.3:p.Met214del
ENST00000279146.7:c.641_643del ENSP00000279146.3:p.Met214del
ENST00000525341.1:c.293_295del ENSP00000476993.1:p.Met98del
ENST00000528641.6:c.452_454del ENSP00000434982.2:p.Met151del
NM_001302959.1:c.464_466del NP_001289888.1:p.Met155del
NM_001302960.1:c.641_643del NP_001289889.1:p.Met214del
NM_003977.3:c.641_643del NP_003968.3:p.Met214del
XM_024448761.1:c.641_643del XP_024304529.1:p.Met214del
NM_003977.4:c.641_643del MANE Select NP_003968.3:p.Met214del
NM_001302960.2:c.641_643del NP_001289889.1:p.Met214del
NM_001302959.2:c.464_466del NP_001289888.1:p.Met155del