Canonical Allele Identifier: CA2580084740

Gene: AIP

Linked Data

• ClinVar Variation Id: 1998142
• ClinVar RCV Id: RCV002810246
• gnomAD v4: 11-67490229-CTGAGGGGGAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490232_67490243del , CM000673.2:g.67490232_67490243del	GRCh38
NC_000011.9:g.67257703_67257714del , CM000673.1:g.67257703_67257714del	GRCh37
NC_000011.8:g.67014279_67014290del	NCBI36
NG_008969.1:g.12199_12210del , LRG_460:g.12199_12210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.622+18_622+29del
ENST00000528641.7:c.456+18_456+29del	ENSP00000434982.3:n.456+18_456+29del
ENST00000529797.2:n.1157+18_1157+29del
ENST00000682324.1:c.469-765_469-754del	ENSP00000508017.1:n.469-765_469-754del
ENST00000682659.1:c.276+18_276+29del	ENSP00000507351.1:n.276+18_276+29del
ENST00000682699.1:c.645+18_645+29del	ENSP00000507935.1:n.645+18_645+29del
ENST00000683237.1:c.645+18_645+29del	ENSP00000507343.1:n.645+18_645+29del
ENST00000683856.1:c.468+18_468+29del	ENSP00000507979.1:n.468+18_468+29del
ENST00000684006.1:c.645+18_645+29del	ENSP00000507269.1:n.645+18_645+29del
ENST00000684657.1:c.465+18_465+29del	ENSP00000507961.1:n.465+18_465+29del
ENST00000279146.8:c.645+18_645+29del MANE Select	ENSP00000279146.3:n.645+18_645+29del
ENST00000279146.7:c.645+18_645+29del	ENSP00000279146.3:n.645+18_645+29del
ENST00000525341.1:c.297+18_297+29del	ENSP00000476993.1:n.297+18_297+29del
ENST00000528641.6:c.456+18_456+29del	ENSP00000434982.2:n.456+18_456+29del
NM_001302959.1:c.468+18_468+29del	NP_001289888.1:n.468+18_468+29del
NM_001302960.1:c.645+18_645+29del	NP_001289889.1:n.645+18_645+29del
NM_003977.3:c.645+18_645+29del	NP_003968.3:n.645+18_645+29del
XM_024448761.1:c.645+18_645+29del	XP_024304529.1:n.645+18_645+29del
NM_003977.4:c.645+18_645+29del MANE Select	NP_003968.3:n.645+18_645+29del
NM_001302960.2:c.645+18_645+29del	NP_001289889.1:n.645+18_645+29del
NM_001302959.2:c.468+18_468+29del	NP_001289888.1:n.468+18_468+29del