Canonical Allele Identifier: CA6140934

Gene: AIP

Linked Data

• ClinVar Variation Id: 1026055
• ClinVar RCV Id: RCV001326457 ; RCV002464041
• dbSNP Id: rs770434824
• ExAC: 11:67257922 TACG / T
• gnomAD v2: 11-67257922-TACG-T
• gnomAD v4: 11-67490451-TACG-T
• MyVariant Identifiers: chr11:g.67257923_67257925del (hg19) ; chr11:g.67490452_67490454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490455_67490457del , CM000673.2:g.67490455_67490457del	GRCh38
NC_000011.9:g.67257926_67257928del , CM000673.1:g.67257926_67257928del	GRCh37
NC_000011.8:g.67014502_67014504del	NCBI36
NG_008969.1:g.12422_12424del , LRG_460:g.12422_12424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.762_764del
ENST00000528641.7:c.596_598del	ENSP00000434982.3:p.Asp200del
ENST00000529797.2:n.1297_1299del
ENST00000682324.1:c.469-542_469-540del	ENSP00000508017.1:n.469-542_469-540del
ENST00000682659.1:c.416_418del	ENSP00000507351.1:p.Asp140del
ENST00000682699.1:c.785_787del	ENSP00000507935.1:p.Asp263del
ENST00000683237.1:c.779+6_779+8del	ENSP00000507343.1:n.779+6_779+8del
ENST00000683856.1:c.608_610del	ENSP00000507979.1:p.Asp204del
ENST00000684006.1:c.785_787del	ENSP00000507269.1:p.Asp262del
ENST00000684657.1:c.605_607del	ENSP00000507961.1:p.Asp203del
ENST00000279146.8:c.785_787del MANE Select	ENSP00000279146.3:p.Asp263del
ENST00000279146.7:c.785_787del	ENSP00000279146.3:p.Asp263del
ENST00000525341.1:c.437_439del	ENSP00000476993.1:p.Asp146del
ENST00000528641.6:c.596_598del	ENSP00000434982.2:p.Asp200del
NM_001302959.1:c.608_610del	NP_001289888.1:p.Asp204del
NM_001302960.1:c.779+6_779+8del	NP_001289889.1:n.779+6_779+8del
NM_003977.3:c.785_787del	NP_003968.3:p.Asp263del
XM_024448761.1:c.785_787del	XP_024304529.1:p.Asp263del
NM_003977.4:c.785_787del MANE Select	NP_003968.3:p.Asp263del
NM_001302960.2:c.779+6_779+8del	NP_001289889.1:n.779+6_779+8del
NM_001302959.2:c.608_610del	NP_001289888.1:p.Asp204del