Canonical Allele Identifier: CA679493227

Gene: AIP

Linked Data

• dbSNP Id: rs1159928352
• gnomAD v3: 11-67489342-CGGCACTGCTGCGGTGT-C
• gnomAD v4: 11-67489342-CGGCACTGCTGCGGTGT-C
• MyVariant Identifiers: chr11:g.67256814_67256829del (hg19) ; chr11:g.67489343_67489358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489343_67489358del , CM000673.2:g.67489343_67489358del	GRCh38
NC_000011.9:g.67256814_67256829del , CM000673.1:g.67256814_67256829del	GRCh37
NC_000011.8:g.67013390_67013405del	NCBI36
NG_008969.1:g.11310_11325del , LRG_460:g.11310_11325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.333_348del
ENST00000528641.7:c.280-695_280-680del	ENSP00000434982.3:n.280-695_280-680del
ENST00000529797.2:n.286_301del
ENST00000682324.1:c.356_371del	ENSP00000508017.1:p.Arg119LeufsTer?
ENST00000682659.1:c.100-695_100-680del	ENSP00000507351.1:n.100-695_100-680del
ENST00000682699.1:c.356_371del	ENSP00000507935.1:p.Arg119LeufsTer?
ENST00000683237.1:c.356_371del	ENSP00000507343.1:p.Arg119LeufsTer?
ENST00000683856.1:c.179_194del	ENSP00000507979.1:p.Arg60LeufsTer?
ENST00000684006.1:c.356_371del	ENSP00000507269.1:p.Arg119LeufsTer?
ENST00000684657.1:c.176_191del	ENSP00000507961.1:p.Arg59LeufsTer?
ENST00000279146.8:c.356_371del MANE Select	ENSP00000279146.3:p.Arg119LeufsTer?
ENST00000279146.7:c.356_371del	ENSP00000279146.3:p.Arg119LeufsTer?
ENST00000525341.1:c.8_23del	ENSP00000476993.1:p.Arg3LeufsTer?
ENST00000528641.6:c.280-695_280-680del	ENSP00000434982.2:n.280-695_280-680del
ENST00000529797.1:n.466_481del
NM_001302959.1:c.179_194del	NP_001289888.1:p.Arg60LeufsTer?
NM_001302960.1:c.356_371del	NP_001289889.1:p.Arg119LeufsTer?
NM_003977.3:c.356_371del	NP_003968.3:p.Arg119LeufsTer?
XM_024448761.1:c.356_371del	XP_024304529.1:p.Arg119LeufsTer?
NM_003977.4:c.356_371del MANE Select	NP_003968.3:p.Arg119LeufsTer?
NM_001302960.2:c.356_371del	NP_001289889.1:p.Arg119LeufsTer?
NM_001302959.2:c.179_194del	NP_001289888.1:p.Arg60LeufsTer?