Canonical Allele Identifier: CA679492178

Gene: AIP

Linked Data

• ClinVar Variation Id: 1051864
• ClinVar RCV Id: RCV001359957
• dbSNP Id: rs1179492033
• gnomAD v3: 11-67487186-GTGTC-G
• gnomAD v4: 11-67487186-GTGTC-G
• MyVariant Identifiers: chr11:g.67254658_67254661del (hg19) ; chr11:g.67487187_67487190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487191_67487194del , CM000673.2:g.67487191_67487194del	GRCh38
NC_000011.9:g.67254662_67254665del , CM000673.1:g.67254662_67254665del	GRCh37
NC_000011.8:g.67011238_67011241del	NCBI36
NG_008969.1:g.9158_9161del , LRG_460:g.9158_9161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.256+6_256+9del
ENST00000528641.7:c.279+6_279+9del	ENSP00000434982.3:n.279+6_279+9del
ENST00000529797.2:n.209+6_209+9del
ENST00000682324.1:c.279+6_279+9del	ENSP00000508017.1:n.279+6_279+9del
ENST00000682659.1:c.100-2847_100-2844del	ENSP00000507351.1:n.100-2847_100-2844del
ENST00000682699.1:c.279+6_279+9del	ENSP00000507935.1:n.279+6_279+9del
ENST00000683237.1:c.279+6_279+9del	ENSP00000507343.1:n.279+6_279+9del
ENST00000683856.1:c.102+6_102+9del	ENSP00000507979.1:n.102+6_102+9del
ENST00000684006.1:c.279+6_279+9del	ENSP00000507269.1:n.279+6_279+9del
ENST00000684657.1:c.100-2076_100-2073del	ENSP00000507961.1:n.100-2076_100-2073del
ENST00000279146.8:c.279+6_279+9del MANE Select	ENSP00000279146.3:n.279+6_279+9del
ENST00000279146.7:c.279+6_279+9del	ENSP00000279146.3:n.279+6_279+9del
ENST00000528641.6:c.279+6_279+9del	ENSP00000434982.2:n.279+6_279+9del
ENST00000529797.1:n.389+6_389+9del
NM_001302959.1:c.102+6_102+9del	NP_001289888.1:n.102+6_102+9del
NM_001302960.1:c.279+6_279+9del	NP_001289889.1:n.279+6_279+9del
NM_003977.3:c.279+6_279+9del	NP_003968.3:n.279+6_279+9del
XM_024448761.1:c.279+6_279+9del	XP_024304529.1:n.279+6_279+9del
NM_003977.4:c.279+6_279+9del MANE Select	NP_003968.3:n.279+6_279+9del
NM_001302960.2:c.279+6_279+9del	NP_001289889.1:n.279+6_279+9del
NM_001302959.2:c.102+6_102+9del	NP_001289888.1:n.102+6_102+9del