Canonical Allele Identifier: CA2739270611

Gene: AIP

Linked Data

• ClinVar Variation Id: 2807736
• ClinVar RCV Id: RCV003684480

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490884_67490889del , CM000673.2:g.67490884_67490889del	GRCh38
NC_000011.9:g.67258355_67258360del , CM000673.1:g.67258355_67258360del	GRCh37
NC_000011.8:g.67014931_67014936del	NCBI36
NG_008969.1:g.12851_12856del , LRG_460:g.12851_12856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1191_1196del
ENST00000528641.7:c.695_700del	ENSP00000434982.3:p.Asp232_Pro233del
ENST00000529797.2:n.1726_1731del
ENST00000682324.1:c.469-113_469-108del	ENSP00000508017.1:n.469-113_469-108del
ENST00000682659.1:c.515_520del	ENSP00000507351.1:p.Asp172_Pro173del
ENST00000682699.1:c.884_889del	ENSP00000507935.1:p.Asp295_Pro296del
ENST00000683237.1:c.*24_*29del	ENSP00000507343.1:n.*24_*29del
ENST00000683856.1:c.707_712del	ENSP00000507979.1:p.Asp236_Pro237del
ENST00000684006.1:c.*24_*29del	ENSP00000507269.1:n.*24_*29del
ENST00000684657.1:c.704_709del	ENSP00000507961.1:p.Asp235_Pro236del
ENST00000279146.8:c.884_889del MANE Select	ENSP00000279146.3:p.Asp295_Pro296del
ENST00000279146.7:c.884_889del	ENSP00000279146.3:p.Asp295_Pro296del
NM_001302959.1:c.707_712del	NP_001289888.1:p.Asp236_Pro237del
NM_001302960.1:c.*24_*29del	NP_001289889.1:n.*24_*29del
NM_003977.3:c.884_889del	NP_003968.3:p.Asp295_Pro296del
XM_024448761.1:c.884_889del	XP_024304529.1:p.Asp295_Pro296del
NM_003977.4:c.884_889del MANE Select	NP_003968.3:p.Asp295_Pro296del
NM_001302960.2:c.*24_*29del	NP_001289889.1:n.*24_*29del
NM_001302959.2:c.707_712del	NP_001289888.1:p.Asp236_Pro237del