Canonical Allele Identifier: CA625463658

Gene: ADAP2

Linked Data

• dbSNP Id: rs1190677904
• gnomAD v2: 17-29283266-TC-T
• gnomAD v4: 17-30956248-TC-T
• MyVariant Identifiers: chr17:g.29283267del (hg19) ; chr17:g.30956249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956249del , CM000679.2:g.30956249del	GRCh38
NC_000017.10:g.29283267del , CM000679.1:g.29283267del	GRCh37
NC_000017.9:g.26307393del	NCBI36
NG_051975.1:g.39514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.891del MANE Select	ENSP00000329468.3:p.Phe297LeufsTer?
ENST00000330889.7:c.891del	ENSP00000329468.3:p.Phe297LeufsTer?
ENST00000470962.1:n.311del
ENST00000480980.1:n.325del
ENST00000580525.5:c.909del	ENSP00000464121.1:p.Phe303LeufsTer?
ENST00000581285.5:c.807del	ENSP00000464155.1:p.Phe269LeufsTer?
ENST00000584828.5:c.260del
ENST00000584989.1:c.183del	ENSP00000462634.1:p.Phe61LeufsTer?
ENST00000585130.5:c.*490del	ENSP00000464120.1:n.*490del
NM_018404.2:c.891del	NP_060874.1:p.Phe297LeufsTer?
XM_005258008.2:c.909del	XP_005258065.1:p.Phe303LeufsTer?
XM_005258011.2:c.846del	XP_005258068.1:p.Phe282LeufsTer?
XM_006721973.2:c.909del	XP_006722036.1:p.Phe303LeufsTer?
XM_011524993.1:c.906del	XP_011523295.1:p.Phe302LeufsTer?
XM_011524994.1:c.888del	XP_011523296.1:p.Phe296LeufsTer?
NM_001346712.1:c.909del	NP_001333641.1:p.Phe303LeufsTer?
NM_001346714.1:c.888del	NP_001333643.1:p.Phe296LeufsTer?
NM_001346716.1:c.891del	NP_001333645.1:p.Phe297LeufsTer?
NR_144488.1:n.1090del
XM_024450831.1:c.891del	XP_024306599.1:p.Phe297LeufsTer?
XM_024450832.1:c.906del	XP_024306600.1:p.Phe302LeufsTer?
XM_024450833.1:c.846del	XP_024306601.1:p.Phe282LeufsTer?
XM_024450834.1:c.909del	XP_024306602.1:p.Phe303LeufsTer?
XM_024450835.1:c.525del	XP_024306603.1:p.Phe175LeufsTer?
NM_018404.3:c.891del MANE Select	NP_060874.1:p.Phe297LeufsTer?
NM_001346712.2:c.909del	NP_001333641.1:p.Phe303LeufsTer?
NM_001346714.2:c.888del	NP_001333643.1:p.Phe296LeufsTer?
NM_001346716.2:c.891del	NP_001333645.1:p.Phe297LeufsTer?
NR_144488.2:n.881del