Canonical Allele Identifier: CA2739270610

Gene: AIP

Linked Data

• ClinVar Variation Id: 2837214
• ClinVar RCV Id: RCV003692457

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490820_67490821delinsTT , CM000673.2:g.67490820_67490821delinsTT	GRCh38
NC_000011.9:g.67258291_67258292delinsTT , CM000673.1:g.67258291_67258292delinsTT	GRCh37
NC_000011.8:g.67014867_67014868delinsTT	NCBI36
NG_008969.1:g.12787_12788delinsTT , LRG_460:g.12787_12788delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1127_1128delinsTT
ENST00000528641.7:c.631_632delinsTT	ENSP00000434982.3:p.Ala211Phe
ENST00000529797.2:n.1662_1663delinsTT
ENST00000682324.1:c.469-177_469-176delinsTT	ENSP00000508017.1:n.469-177_469-176delinsTT
ENST00000682659.1:c.451_452delinsTT	ENSP00000507351.1:p.Ala151Phe
ENST00000682699.1:c.820_821delinsTT	ENSP00000507935.1:p.Ala274Phe
ENST00000683237.1:c.812_813delinsTT	ENSP00000507343.1:p.Gly271Val
ENST00000683856.1:c.643_644delinsTT	ENSP00000507979.1:p.Ala215Phe
ENST00000684006.1:c.809_810delinsTT	ENSP00000507269.1:p.Gly270Val
ENST00000684657.1:c.640_641delinsTT	ENSP00000507961.1:p.Ala214Phe
ENST00000279146.8:c.820_821delinsTT MANE Select	ENSP00000279146.3:p.Ala274Phe
ENST00000279146.7:c.820_821delinsTT	ENSP00000279146.3:p.Ala274Phe
ENST00000528641.6:c.631_632delinsTT	ENSP00000434982.2:p.Ala211Phe
NM_001302959.1:c.643_644delinsTT	NP_001289888.1:p.Ala215Phe
NM_001302960.1:c.812_813delinsTT	NP_001289889.1:p.Gly271Val
NM_003977.3:c.820_821delinsTT	NP_003968.3:p.Ala274Phe
XM_024448761.1:c.820_821delinsTT	XP_024304529.1:p.Ala274Phe
NM_003977.4:c.820_821delinsTT MANE Select	NP_003968.3:p.Ala274Phe
NM_001302960.2:c.812_813delinsTT	NP_001289889.1:p.Gly271Val
NM_001302959.2:c.643_644delinsTT	NP_001289888.1:p.Ala215Phe