Canonical Allele Identifier: CA2637061719

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956730-T-TACAGACAGCACCCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956730_30956731insACAGACAGCACCCAG , CM000679.2:g.30956730_30956731insACAGACAGCACCCAG	GRCh38
NC_000017.10:g.29283748_29283749insACAGACAGCACCCAG , CM000679.1:g.29283748_29283749insACAGACAGCACCCAG	GRCh37
NC_000017.9:g.26307874_26307875insACAGACAGCACCCAG	NCBI36
NG_051975.1:g.39995_39996insACAGACAGCACCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1111+261_1111+262insACAGACAGCACCCAG MANE Select	ENSP00000329468.3:n.1111+261_1111+262insACAGACAGCACCCAG
ENST00000330889.7:c.1111+261_1111+262insACAGACAGCACCCAG	ENSP00000329468.3:n.1111+261_1111+262insACAGACAGCACCCAG
ENST00000470962.1:n.531+261_531+262insACAGACAGCACCCAG
ENST00000580525.5:c.1129+261_1129+262insACAGACAGCACCCAG	ENSP00000464121.1:n.1129+261_1129+262insACAGACAGCACCCAG
ENST00000584828.5:c.402+339_402+340insACAGACAGCACCCAG
ENST00000585130.5:c.*710+261_*710+262insACAGACAGCACCCAG	ENSP00000464120.1:n.*710+261_*710+262insACAGACAGCACCCAG
NM_018404.2:c.1111+261_1111+262insACAGACAGCACCCAG	NP_060874.1:n.1111+261_1111+262insACAGACAGCACCCAG
XM_005258008.2:c.1129+261_1129+262insACAGACAGCACCCAG	XP_005258065.1:n.1129+261_1129+262insACAGACAGCACCCAG
XM_005258011.2:c.1066+261_1066+262insACAGACAGCACCCAG	XP_005258068.1:n.1066+261_1066+262insACAGACAGCACCCAG
XM_006721973.2:c.1051+339_1051+340insACAGACAGCACCCAG	XP_006722036.1:n.1051+339_1051+340insACAGACAGCACCCAG
XM_011524993.1:c.1126+261_1126+262insACAGACAGCACCCAG	XP_011523295.1:n.1126+261_1126+262insACAGACAGCACCCAG
XM_011524994.1:c.1108+261_1108+262insACAGACAGCACCCAG	XP_011523296.1:n.1108+261_1108+262insACAGACAGCACCCAG
NM_001346712.1:c.1129+261_1129+262insACAGACAGCACCCAG	NP_001333641.1:n.1129+261_1129+262insACAGACAGCACCCAG
NM_001346714.1:c.1108+261_1108+262insACAGACAGCACCCAG	NP_001333643.1:n.1108+261_1108+262insACAGACAGCACCCAG
NM_001346716.1:c.1033+339_1033+340insACAGACAGCACCCAG	NP_001333645.1:n.1033+339_1033+340insACAGACAGCACCCAG
NR_144488.1:n.1310+261_1310+262insACAGACAGCACCCAG
XM_024450832.1:c.1126+261_1126+262insACAGACAGCACCCAG	XP_024306600.1:n.1126+261_1126+262insACAGACAGCACCCAG
XM_024450833.1:c.1066+261_1066+262insACAGACAGCACCCAG	XP_024306601.1:n.1066+261_1066+262insACAGACAGCACCCAG
XM_024450834.1:c.1051+339_1051+340insACAGACAGCACCCAG	XP_024306602.1:n.1051+339_1051+340insACAGACAGCACCCAG
XM_024450835.1:c.745+261_745+262insACAGACAGCACCCAG	XP_024306603.1:n.745+261_745+262insACAGACAGCACCCAG
NM_018404.3:c.1111+261_1111+262insACAGACAGCACCCAG MANE Select	NP_060874.1:n.1111+261_1111+262insACAGACAGCACCCAG
NM_001346712.2:c.1129+261_1129+262insACAGACAGCACCCAG	NP_001333641.1:n.1129+261_1129+262insACAGACAGCACCCAG
NM_001346714.2:c.1108+261_1108+262insACAGACAGCACCCAG	NP_001333643.1:n.1108+261_1108+262insACAGACAGCACCCAG
NM_001346716.2:c.1033+339_1033+340insACAGACAGCACCCAG	NP_001333645.1:n.1033+339_1033+340insACAGACAGCACCCAG
NR_144488.2:n.1101+261_1101+262insACAGACAGCACCCAG