Canonical Allele Identifier: CA6140688

Gene: AIP

Linked Data

• ClinVar Variation Id: 1603906
• ClinVar RCV Id: RCV002147185
• dbSNP Id: rs747813691
• ExAC: 11:67250736 TCTACC / T
• gnomAD v2: 11-67250736-TCTACC-T
• gnomAD v4: 11-67483265-TCTACC-T
• MyVariant Identifiers: chr11:g.67250737_67250741del (hg19) ; chr11:g.67483266_67483270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483273_67483277del , CM000673.2:g.67483273_67483277del	GRCh38
NC_000011.9:g.67250744_67250748del , CM000673.1:g.67250744_67250748del	GRCh37
NC_000011.8:g.67007320_67007324del	NCBI36
NG_008969.1:g.5240_5244del , LRG_460:g.5240_5244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.76+16_76+20del
ENST00000528641.7:c.99+16_99+20del	ENSP00000434982.3:n.99+16_99+20del
ENST00000529797.2:n.29+16_29+20del
ENST00000682324.1:c.99+16_99+20del	ENSP00000508017.1:n.99+16_99+20del
ENST00000682659.1:c.99+16_99+20del	ENSP00000507351.1:n.99+16_99+20del
ENST00000682699.1:c.99+16_99+20del	ENSP00000507935.1:n.99+16_99+20del
ENST00000683237.1:c.99+16_99+20del	ENSP00000507343.1:n.99+16_99+20del
ENST00000684006.1:c.99+16_99+20del	ENSP00000507269.1:n.99+16_99+20del
ENST00000684657.1:c.99+16_99+20del	ENSP00000507961.1:n.99+16_99+20del
ENST00000279146.8:c.99+16_99+20del MANE Select	ENSP00000279146.3:n.99+16_99+20del
ENST00000279146.7:c.99+16_99+20del	ENSP00000279146.3:n.99+16_99+20del
ENST00000528641.6:c.99+16_99+20del	ENSP00000434982.2:n.99+16_99+20del
ENST00000529797.1:n.209+16_209+20del
NM_001302960.1:c.99+16_99+20del	NP_001289889.1:n.99+16_99+20del
NM_003977.3:c.99+16_99+20del	NP_003968.3:n.99+16_99+20del
XM_024448761.1:c.99+16_99+20del	XP_024304529.1:n.99+16_99+20del
NM_003977.4:c.99+16_99+20del MANE Select	NP_003968.3:n.99+16_99+20del
NM_001302960.2:c.99+16_99+20del	NP_001289889.1:n.99+16_99+20del