Canonical Allele Identifier: CA6140980

Gene: AIP

Linked Data

• ClinVar Variation Id: 485060
• ClinVar RCV Id: RCV000574355 ; RCV001049367
• dbSNP Id: rs760690172
• ExAC: 11:67258258 GACA / G
• gnomAD v2: 11-67258258-GACA-G
• gnomAD v3: 11-67490787-GACA-G
• gnomAD v4: 11-67490787-GACA-G
• MyVariant Identifiers: chr11:g.67258261_67258263del (hg19) ; chr11:g.67258259_67258261del (hg19) ; chr11:g.67490790_67490792del (hg38) ; chr11:g.67490788_67490790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490790_67490792del , CM000673.2:g.67490790_67490792del	GRCh38
NC_000011.9:g.67258261_67258263del , CM000673.1:g.67258261_67258263del	GRCh37
NC_000011.8:g.67014837_67014839del	NCBI36
NG_008969.1:g.12757_12759del , LRG_460:g.12757_12759del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1097_1099del
ENST00000528641.7:c.601_603del	ENSP00000434982.3:p.Asn201del
ENST00000529797.2:n.1632_1634del
ENST00000682324.1:c.469-207_469-205del	ENSP00000508017.1:n.469-207_469-205del
ENST00000682659.1:c.421_423del	ENSP00000507351.1:p.Asn141del
ENST00000682699.1:c.790_792del	ENSP00000507935.1:p.Asn264del
ENST00000683237.1:c.782_784del	ENSP00000507343.1:p.Gln261del
ENST00000683856.1:c.613_615del	ENSP00000507979.1:p.Asn205del
ENST00000684006.1:c.788-9_788-7del	ENSP00000507269.1:n.788-9_788-7del
ENST00000684657.1:c.610_612del	ENSP00000507961.1:p.Asn204del
ENST00000279146.8:c.790_792del MANE Select	ENSP00000279146.3:p.Asn264del
ENST00000279146.7:c.790_792del	ENSP00000279146.3:p.Asn264del
ENST00000528641.6:c.601_603del	ENSP00000434982.2:p.Asn201del
NM_001302959.1:c.613_615del	NP_001289888.1:p.Asn205del
NM_001302960.1:c.782_784del	NP_001289889.1:p.Gln261del
NM_003977.3:c.790_792del	NP_003968.3:p.Asn264del
XM_024448761.1:c.790_792del	XP_024304529.1:p.Asn264del
NM_003977.4:c.790_792del MANE Select	NP_003968.3:p.Asn264del
NM_001302960.2:c.782_784del	NP_001289889.1:p.Gln261del
NM_001302959.2:c.613_615del	NP_001289888.1:p.Asn205del