Allele Registry

Canonical Allele Identifier: CA344098

Gene: AIP HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr11:g.67489337del

GRCh37 chr11:g.67256808del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000034074

ClinVar Variation:

41175

dbSNP:

267606549

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489337del , CM000673.2:g.67489337del	GRCh38
NC_000011.9:g.67256808del , CM000673.1:g.67256808del	GRCh37
NC_000011.8:g.67013384del	NCBI36
NG_008969.1:g.11304del , LRG_460:g.11304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.327del
ENST00000528641.7:c.280-701del	ENSP00000434982.3:n.280-701del
ENST00000529797.2:n.280del
ENST00000682324.1:c.350del	ENSP00000508017.1:p.Gly117AlafsTer?
ENST00000682659.1:c.100-701del	ENSP00000507351.1:n.100-701del
ENST00000682699.1:c.350del	ENSP00000507935.1:p.Gly117AlafsTer?
ENST00000683237.1:c.350del	ENSP00000507343.1:p.Gly117AlafsTer?
ENST00000683856.1:c.173del	ENSP00000507979.1:p.Gly58AlafsTer?
ENST00000684006.1:c.350del	ENSP00000507269.1:p.Gly117AlafsTer?
ENST00000684657.1:c.170del	ENSP00000507961.1:p.Gly57AlafsTer?
ENST00000279146.8:c.350del MANE Select	ENSP00000279146.3:p.Gly117AlafsTer?
ENST00000279146.7:c.350del	ENSP00000279146.3:p.Gly117AlafsTer?
ENST00000528641.6:c.280-701del	ENSP00000434982.2:n.280-701del
ENST00000529797.1:n.460del
NM_001302959.1:c.173del	NP_001289888.1:p.Gly58AlafsTer?
NM_001302960.1:c.350del	NP_001289889.1:p.Gly117AlafsTer?
NM_003977.3:c.350del	NP_003968.3:p.Gly117AlafsTer?
XM_024448761.1:c.350del	XP_024304529.1:p.Gly117AlafsTer?
NM_003977.4:c.350del MANE Select	NP_003968.3:p.Gly117AlafsTer?
NM_001302960.2:c.350del	NP_001289889.1:p.Gly117AlafsTer?
NM_001302959.2:c.173del	NP_001289888.1:p.Gly58AlafsTer?

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