Canonical Allele Identifier: CA356559
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 242674
ClinVar RCV Id: RCV000034118
dbSNP Id: rs267606585
MyVariant Identifiers: chr11:g.67258351_67258362del (hg19) chr11:g.67490880_67490891del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490884_67490895del , CM000673.2:g.67490884_67490895del GRCh38
NC_000011.9:g.67258355_67258366del , CM000673.1:g.67258355_67258366del GRCh37
NC_000011.8:g.67014931_67014942del NCBI36
NG_008969.1:g.12851_12862del , LRG_460:g.12851_12862del

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.1191_1202del
ENST00000528641.7:c.695_706del ENSP00000434982.3:p.Asp232_Leu235del
ENST00000529797.2:n.1726_1737del
ENST00000682324.1:c.469-113_469-102del ENSP00000508017.1:n.469-113_469-102del
ENST00000682659.1:c.515_526del ENSP00000507351.1:p.Asp172_Leu175del
ENST00000682699.1:c.884_895del ENSP00000507935.1:p.Asp295_Leu298del
ENST00000683237.1:c.*24_*35del ENSP00000507343.1:n.*24_*35del
ENST00000683856.1:c.707_718del ENSP00000507979.1:p.Asp236_Leu239del
ENST00000684006.1:c.*24_*35del ENSP00000507269.1:n.*24_*35del
ENST00000684657.1:c.704_715del ENSP00000507961.1:p.Asp235_Leu238del
ENST00000279146.8:c.884_895del MANE Select ENSP00000279146.3:p.Asp295_Leu298del
ENST00000279146.7:c.884_895del ENSP00000279146.3:p.Asp295_Leu298del
NM_001302959.1:c.707_718del NP_001289888.1:p.Asp236_Leu239del
NM_001302960.1:c.*24_*35del NP_001289889.1:n.*24_*35del
NM_003977.3:c.884_895del NP_003968.3:p.Asp295_Leu298del
XM_024448761.1:c.884_895del XP_024304529.1:p.Asp295_Leu298del
NM_003977.4:c.884_895del MANE Select NP_003968.3:p.Asp295_Leu298del
NM_001302960.2:c.*24_*35del NP_001289889.1:n.*24_*35del
NM_001302959.2:c.707_718del NP_001289888.1:p.Asp236_Leu239del
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