Canonical Allele Identifier: CA625463659

Gene: ADAP2

Linked Data

• dbSNP Id: rs1567728345
• gnomAD v2: 17-29283268-GAGCAGGGCCAGGTT-G
• gnomAD v4: 17-30956250-GAGCAGGGCCAGGTT-G
• MyVariant Identifiers: chr17:g.29283269_29283282del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956251_30956264del , CM000679.2:g.30956251_30956264del	GRCh38
NC_000017.10:g.29283269_29283282del , CM000679.1:g.29283269_29283282del	GRCh37
NC_000017.9:g.26307395_26307408del	NCBI36
NG_051975.1:g.39516_39529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.893_906del MANE Select	ENSP00000329468.3:p.Glu298ValfsTer10
ENST00000330889.7:c.893_906del	ENSP00000329468.3:p.Glu298ValfsTer10
ENST00000470962.1:n.313_326del
ENST00000480980.1:n.327_340del
ENST00000580525.5:c.911_924del	ENSP00000464121.1:p.Glu304ValfsTer10
ENST00000581285.5:c.809_822del	ENSP00000464155.1:p.Glu270ValfsTer10
ENST00000584828.5:c.262_275del
ENST00000584989.1:c.185_198del	ENSP00000462634.1:p.Glu62ValfsTer10
ENST00000585130.5:c.*492_*505del	ENSP00000464120.1:n.*492_*505del
NM_018404.2:c.893_906del	NP_060874.1:p.Glu298ValfsTer10
XM_005258008.2:c.911_924del	XP_005258065.1:p.Glu304ValfsTer10
XM_005258011.2:c.848_861del	XP_005258068.1:p.Glu283ValfsTer10
XM_006721973.2:c.911_924del	XP_006722036.1:p.Glu304ValfsTer10
XM_011524993.1:c.908_921del	XP_011523295.1:p.Glu303ValfsTer10
XM_011524994.1:c.890_903del	XP_011523296.1:p.Glu297ValfsTer10
NM_001346712.1:c.911_924del	NP_001333641.1:p.Glu304ValfsTer10
NM_001346714.1:c.890_903del	NP_001333643.1:p.Glu297ValfsTer10
NM_001346716.1:c.893_906del	NP_001333645.1:p.Glu298ValfsTer10
NR_144488.1:n.1092_1105del
XM_024450831.1:c.893_906del	XP_024306599.1:p.Glu298ValfsTer10
XM_024450832.1:c.908_921del	XP_024306600.1:p.Glu303ValfsTer10
XM_024450833.1:c.848_861del	XP_024306601.1:p.Glu283ValfsTer10
XM_024450834.1:c.911_924del	XP_024306602.1:p.Glu304ValfsTer10
XM_024450835.1:c.527_540del	XP_024306603.1:p.Glu176ValfsTer10
NM_018404.3:c.893_906del MANE Select	NP_060874.1:p.Glu298ValfsTer10
NM_001346712.2:c.911_924del	NP_001333641.1:p.Glu304ValfsTer10
NM_001346714.2:c.890_903del	NP_001333643.1:p.Glu297ValfsTer10
NM_001346716.2:c.893_906del	NP_001333645.1:p.Glu298ValfsTer10
NR_144488.2:n.883_896del