Canonical Allele Identifier: CA1139662046

Gene: AIP

Linked Data

• ClinVar Variation Id: 964143
• ClinVar RCV Id: RCV001238308
• dbSNP Id: rs1865878972

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490333del , CM000673.2:g.67490333del	GRCh38
NC_000011.9:g.67257804del , CM000673.1:g.67257804del	GRCh37
NC_000011.8:g.67014380del	NCBI36
NG_008969.1:g.12300del , LRG_460:g.12300del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.640del
ENST00000528641.7:c.474del	ENSP00000434982.3:p.Glu159AsnfsTer?
ENST00000529797.2:n.1175del
ENST00000682324.1:c.469-664del	ENSP00000508017.1:n.469-664del
ENST00000682659.1:c.294del	ENSP00000507351.1:p.Glu99AsnfsTer?
ENST00000682699.1:c.663del	ENSP00000507935.1:p.Glu222AsnfsTer?
ENST00000683237.1:c.663del	ENSP00000507343.1:p.Glu222AsnfsTer?
ENST00000683856.1:c.486del	ENSP00000507979.1:p.Glu163AsnfsTer?
ENST00000684006.1:c.663del	ENSP00000507269.1:p.Glu222AsnfsTer?
ENST00000684657.1:c.483del	ENSP00000507961.1:p.Glu162AsnfsTer?
ENST00000279146.8:c.663del MANE Select	ENSP00000279146.3:p.Glu222AsnfsTer?
ENST00000279146.7:c.663del	ENSP00000279146.3:p.Glu222AsnfsTer?
ENST00000525341.1:c.315del	ENSP00000476993.1:p.Glu106AsnfsTer?
ENST00000528641.6:c.474del	ENSP00000434982.2:p.Glu159AsnfsTer?
NM_001302959.1:c.486del	NP_001289888.1:p.Glu163AsnfsTer?
NM_001302960.1:c.663del	NP_001289889.1:p.Glu222AsnfsTer?
NM_003977.3:c.663del	NP_003968.3:p.Glu222AsnfsTer?
XM_024448761.1:c.663del	XP_024304529.1:p.Glu222AsnfsTer?
NM_003977.4:c.663del MANE Select	NP_003968.3:p.Glu222AsnfsTer?
NM_001302960.2:c.663del	NP_001289889.1:p.Glu222AsnfsTer?
NM_001302959.2:c.486del	NP_001289888.1:p.Glu163AsnfsTer?