Canonical Allele Identifier: CA2580615739

Gene: AIP

Linked Data

• ClinVar Variation Id: 2020092
• ClinVar RCV Id: RCV002852308

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490983_67490985del , CM000673.2:g.67490983_67490985del	GRCh38
NC_000011.9:g.67258454_67258456del , CM000673.1:g.67258454_67258456del	GRCh37
NC_000011.8:g.67015030_67015032del	NCBI36
NG_008969.1:g.12950_12952del , LRG_460:g.12950_12952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1290_1292del
ENST00000528641.7:c.794_796del	ENSP00000434982.3:p.Phe265del
ENST00000529797.2:n.1825_1827del
ENST00000682324.1:c.469-14_469-12del	ENSP00000508017.1:n.469-14_469-12del
ENST00000682659.1:c.614_616del	ENSP00000507351.1:p.Phe205del
ENST00000683237.1:c.*123_*125del	ENSP00000507343.1:n.*123_*125del
ENST00000683856.1:c.806_808del	ENSP00000507979.1:p.Phe269del
ENST00000684006.1:c.*123_*125del	ENSP00000507269.1:n.*123_*125del
ENST00000684657.1:c.803_805del	ENSP00000507961.1:p.Phe268del
ENST00000279146.8:c.983_985del MANE Select	ENSP00000279146.3:p.Phe328del
ENST00000279146.7:c.983_985del	ENSP00000279146.3:p.Phe328del
NM_001302959.1:c.806_808del	NP_001289888.1:p.Phe269del
NM_001302960.1:c.*123_*125del	NP_001289889.1:n.*123_*125del
NM_003977.3:c.983_985del	NP_003968.3:p.Phe328del
XM_024448761.1:c.983_985del	XP_024304529.1:p.Phe328del
NM_003977.4:c.983_985del MANE Select	NP_003968.3:p.Phe328del
NM_001302960.2:c.*123_*125del	NP_001289889.1:n.*123_*125del
NM_001302959.2:c.806_808del	NP_001289888.1:p.Phe269del