Canonical Allele Identifier: CA2637061607

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956619-CACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956623_30956626del , CM000679.2:g.30956623_30956626del	GRCh38
NC_000017.10:g.29283641_29283644del , CM000679.1:g.29283641_29283644del	GRCh37
NC_000017.9:g.26307767_26307770del	NCBI36
NG_051975.1:g.39888_39891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1111+154_1111+157del MANE Select	ENSP00000329468.3:n.1111+154_1111+157del
ENST00000330889.7:c.1111+154_1111+157del	ENSP00000329468.3:n.1111+154_1111+157del
ENST00000470962.1:n.531+154_531+157del
ENST00000480980.1:n.699_702del
ENST00000580525.5:c.1129+154_1129+157del	ENSP00000464121.1:n.1129+154_1129+157del
ENST00000584828.5:c.402+232_402+235del
ENST00000585130.5:c.*710+154_*710+157del	ENSP00000464120.1:n.*710+154_*710+157del
NM_018404.2:c.1111+154_1111+157del	NP_060874.1:n.1111+154_1111+157del
XM_005258008.2:c.1129+154_1129+157del	XP_005258065.1:n.1129+154_1129+157del
XM_005258011.2:c.1066+154_1066+157del	XP_005258068.1:n.1066+154_1066+157del
XM_006721973.2:c.1051+232_1051+235del	XP_006722036.1:n.1051+232_1051+235del
XM_011524993.1:c.1126+154_1126+157del	XP_011523295.1:n.1126+154_1126+157del
XM_011524994.1:c.1108+154_1108+157del	XP_011523296.1:n.1108+154_1108+157del
NM_001346712.1:c.1129+154_1129+157del	NP_001333641.1:n.1129+154_1129+157del
NM_001346714.1:c.1108+154_1108+157del	NP_001333643.1:n.1108+154_1108+157del
NM_001346716.1:c.1033+232_1033+235del	NP_001333645.1:n.1033+232_1033+235del
NR_144488.1:n.1310+154_1310+157del
XM_024450831.1:c.*53_*56del	XP_024306599.1:n.*53_*56del
XM_024450832.1:c.1126+154_1126+157del	XP_024306600.1:n.1126+154_1126+157del
XM_024450833.1:c.1066+154_1066+157del	XP_024306601.1:n.1066+154_1066+157del
XM_024450834.1:c.1051+232_1051+235del	XP_024306602.1:n.1051+232_1051+235del
XM_024450835.1:c.745+154_745+157del	XP_024306603.1:n.745+154_745+157del
NM_018404.3:c.1111+154_1111+157del MANE Select	NP_060874.1:n.1111+154_1111+157del
NM_001346712.2:c.1129+154_1129+157del	NP_001333641.1:n.1129+154_1129+157del
NM_001346714.2:c.1108+154_1108+157del	NP_001333643.1:n.1108+154_1108+157del
NM_001346716.2:c.1033+232_1033+235del	NP_001333645.1:n.1033+232_1033+235del
NR_144488.2:n.1101+154_1101+157del