Canonical Allele Identifier: CA2697548772

Gene: AIP

Linked Data

• ClinVar Variation Id: 2700398
• ClinVar RCV Id: RCV003547201

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490874del , CM000673.2:g.67490874del	GRCh38
NC_000011.9:g.67258345del , CM000673.1:g.67258345del	GRCh37
NC_000011.8:g.67014921del	NCBI36
NG_008969.1:g.12841del , LRG_460:g.12841del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1181del
ENST00000528641.7:c.685del	ENSP00000434982.3:p.Leu229TrpfsTer11
ENST00000529797.2:n.1716del
ENST00000682324.1:c.469-123del	ENSP00000508017.1:n.469-123del
ENST00000682659.1:c.505del	ENSP00000507351.1:p.Leu169TrpfsTer11
ENST00000682699.1:c.874del	ENSP00000507935.1:p.Leu292TrpfsTer11
ENST00000683237.1:c.*14del	ENSP00000507343.1:n.*14del
ENST00000683856.1:c.697del	ENSP00000507979.1:p.Leu233TrpfsTer11
ENST00000684006.1:c.*14del	ENSP00000507269.1:n.*14del
ENST00000684657.1:c.694del	ENSP00000507961.1:p.Leu232TrpfsTer11
ENST00000279146.8:c.874del MANE Select	ENSP00000279146.3:p.Leu292TrpfsTer11
ENST00000279146.7:c.874del	ENSP00000279146.3:p.Leu292TrpfsTer11
ENST00000528641.6:c.685del	ENSP00000434982.2:p.Leu229TrpfsTer?
NM_001302959.1:c.697del	NP_001289888.1:p.Leu233TrpfsTer11
NM_001302960.1:c.*14del	NP_001289889.1:n.*14del
NM_003977.3:c.874del	NP_003968.3:p.Leu292TrpfsTer11
XM_024448761.1:c.874del	XP_024304529.1:p.Leu292TrpfsTer11
NM_003977.4:c.874del MANE Select	NP_003968.3:p.Leu292TrpfsTer11
NM_001302960.2:c.*14del	NP_001289889.1:n.*14del
NM_001302959.2:c.697del	NP_001289888.1:p.Leu233TrpfsTer11