Canonical Allele Identifier: CA2582341884

Gene: AIP

Linked Data

• ClinVar Variation Id: 2582409
• ClinVar RCV Id: RCV003333393

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490073_67490079del , CM000673.2:g.67490073_67490079del	GRCh38
NC_000011.9:g.67257544_67257550del , CM000673.1:g.67257544_67257550del	GRCh37
NC_000011.8:g.67014120_67014126del	NCBI36
NG_008969.1:g.12040_12046del , LRG_460:g.12040_12046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.481_487del
ENST00000528641.7:c.315_321del	ENSP00000434982.3:p.Trp105Ter
ENST00000529797.2:n.1016_1022del
ENST00000682324.1:c.468+618_468+624del	ENSP00000508017.1:n.468+618_468+624del
ENST00000682659.1:c.135_141del	ENSP00000507351.1:p.Trp45Ter
ENST00000682699.1:c.504_510del	ENSP00000507935.1:p.Trp168Ter
ENST00000683237.1:c.504_510del	ENSP00000507343.1:p.Trp168Ter
ENST00000683856.1:c.327_333del	ENSP00000507979.1:p.Trp109Ter
ENST00000684006.1:c.504_510del	ENSP00000507269.1:p.Trp168Ter
ENST00000684657.1:c.324_330del	ENSP00000507961.1:p.Trp108Ter
ENST00000279146.8:c.504_510del MANE Select	ENSP00000279146.3:p.Trp168Ter
ENST00000279146.7:c.504_510del	ENSP00000279146.3:p.Trp168Ter
ENST00000525341.1:c.156_162del	ENSP00000476993.1:p.Trp52Ter
ENST00000528641.6:c.315_321del	ENSP00000434982.2:p.Trp105Ter
NM_001302959.1:c.327_333del	NP_001289888.1:p.Trp109Ter
NM_001302960.1:c.504_510del	NP_001289889.1:p.Trp168Ter
NM_003977.3:c.504_510del	NP_003968.3:p.Trp168Ter
XM_024448761.1:c.504_510del	XP_024304529.1:p.Trp168Ter
NM_003977.4:c.504_510del MANE Select	NP_003968.3:p.Trp168Ter
NM_001302960.2:c.504_510del	NP_001289889.1:p.Trp168Ter
NM_001302959.2:c.327_333del	NP_001289888.1:p.Trp109Ter