Canonical Allele Identifier: CA2695198923

Gene: AIP

Linked Data

• ClinVar Variation Id: 2675420
• ClinVar RCV Id: RCV003460152

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490844dup , CM000673.2:g.67490844dup	GRCh38
NC_000011.9:g.67258315dup , CM000673.1:g.67258315dup	GRCh37
NC_000011.8:g.67014891dup	NCBI36
NG_008969.1:g.12811dup , LRG_460:g.12811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1151dup
ENST00000528641.7:c.655dup	ENSP00000434982.3:p.Gln219ProfsTer6
ENST00000529797.2:n.1686dup
ENST00000682324.1:c.469-153dup	ENSP00000508017.1:n.469-153dup
ENST00000682659.1:c.475dup	ENSP00000507351.1:p.Gln159ProfsTer6
ENST00000682699.1:c.844dup	ENSP00000507935.1:p.Gln282ProfsTer6
ENST00000683237.1:c.836dup	ENSP00000507343.1:p.Gly280ArgfsTer21
ENST00000683856.1:c.667dup	ENSP00000507979.1:p.Gln223ProfsTer6
ENST00000684006.1:c.833dup	ENSP00000507269.1:p.Gly279ArgfsTer21
ENST00000684657.1:c.664dup	ENSP00000507961.1:p.Gln222ProfsTer6
ENST00000279146.8:c.844dup MANE Select	ENSP00000279146.3:p.Gln282ProfsTer6
ENST00000279146.7:c.844dup	ENSP00000279146.3:p.Gln282ProfsTer6
ENST00000528641.6:c.655dup	ENSP00000434982.2:p.Gln219ProfsTer6
NM_001302959.1:c.667dup	NP_001289888.1:p.Gln223ProfsTer6
NM_001302960.1:c.836dup	NP_001289889.1:p.Gly280ArgfsTer21
NM_003977.3:c.844dup	NP_003968.3:p.Gln282ProfsTer6
XM_024448761.1:c.844dup	XP_024304529.1:p.Gln282ProfsTer6
NM_003977.4:c.844dup MANE Select	NP_003968.3:p.Gln282ProfsTer6
NM_001302960.2:c.836dup	NP_001289889.1:p.Gly280ArgfsTer21
NM_001302959.2:c.667dup	NP_001289888.1:p.Gln223ProfsTer6