Canonical Allele Identifier: CA344150
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41195
ClinVar RCV Id: RCV000034094
dbSNP Id: rs104895075

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490332dup , CM000673.2:g.67490332dup GRCh38
NC_000011.9:g.67257803dup , CM000673.1:g.67257803dup GRCh37
NC_000011.8:g.67014379dup NCBI36
NG_008969.1:g.12299dup , LRG_460:g.12299dup

Transcript Alleles

HGVS Amino-acid change
ENST00000279146.8:c.662dup MANE Select ENSP00000279146.3:p.Glu222Ter
ENST00000279146.7:c.662dup ENSP00000279146.3:p.Glu222Ter
ENST00000525341.1:n.314dup ENSP00000476993.1:p.Glu106Ter
ENST00000528641.6:c.473dup ENSP00000434982.2:p.Glu159Ter
NM_001302959.1:c.485dup NP_001289888.1:p.Glu163Ter
NM_001302960.1:c.662dup NP_001289889.1:p.Glu222Ter
NM_003977.3:c.662dup NP_003968.3:p.Glu222Ter
XM_024448761.1:c.662dup XP_024304529.1:p.Glu222Ter
NM_003977.4:c.662dup MANE Select NP_003968.3:p.Glu222Ter
NM_001302960.2:c.662dup NP_001289889.1:p.Glu222Ter
NM_001302959.2:c.485dup NP_001289888.1:p.Glu163Ter