Canonical Allele Identifier: CA727980983

Gene: ADAP2

Linked Data

• dbSNP Id: rs1185210260
• gnomAD v4: 17-30956727-GGGTGCTGTCTGTACCCCTTGC-G
• MyVariant Identifiers: chr17:g.29283746_29283766del (hg19) ; chr17:g.30956728_30956748del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956732_30956752del , CM000679.2:g.30956732_30956752del	GRCh38
NC_000017.10:g.29283750_29283770del , CM000679.1:g.29283750_29283770del	GRCh37
NC_000017.9:g.26307876_26307896del	NCBI36
NG_051975.1:g.39997_40017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1111+263_1111+283del MANE Select	ENSP00000329468.3:n.1111+263_1111+283del
ENST00000330889.7:c.1111+263_1111+283del	ENSP00000329468.3:n.1111+263_1111+283del
ENST00000470962.1:n.531+263_531+283del
ENST00000580525.5:c.1129+263_1129+283del	ENSP00000464121.1:n.1129+263_1129+283del
ENST00000584828.5:c.402+341_402+361del
ENST00000585130.5:c.*710+263_*710+283del	ENSP00000464120.1:n.*710+263_*710+283del
NM_018404.2:c.1111+263_1111+283del	NP_060874.1:n.1111+263_1111+283del
XM_005258008.2:c.1129+263_1129+283del	XP_005258065.1:n.1129+263_1129+283del
XM_005258011.2:c.1066+263_1066+283del	XP_005258068.1:n.1066+263_1066+283del
XM_006721973.2:c.1051+341_1051+361del	XP_006722036.1:n.1051+341_1051+361del
XM_011524993.1:c.1126+263_1126+283del	XP_011523295.1:n.1126+263_1126+283del
XM_011524994.1:c.1108+263_1108+283del	XP_011523296.1:n.1108+263_1108+283del
NM_001346712.1:c.1129+263_1129+283del	NP_001333641.1:n.1129+263_1129+283del
NM_001346714.1:c.1108+263_1108+283del	NP_001333643.1:n.1108+263_1108+283del
NM_001346716.1:c.1033+341_1033+361del	NP_001333645.1:n.1033+341_1033+361del
NR_144488.1:n.1310+263_1310+283del
XM_024450832.1:c.1126+263_1126+283del	XP_024306600.1:n.1126+263_1126+283del
XM_024450833.1:c.1066+263_1066+283del	XP_024306601.1:n.1066+263_1066+283del
XM_024450834.1:c.1051+341_1051+361del	XP_024306602.1:n.1051+341_1051+361del
XM_024450835.1:c.745+263_745+283del	XP_024306603.1:n.745+263_745+283del
NM_018404.3:c.1111+263_1111+283del MANE Select	NP_060874.1:n.1111+263_1111+283del
NM_001346712.2:c.1129+263_1129+283del	NP_001333641.1:n.1129+263_1129+283del
NM_001346714.2:c.1108+263_1108+283del	NP_001333643.1:n.1108+263_1108+283del
NM_001346716.2:c.1033+341_1033+361del	NP_001333645.1:n.1033+341_1033+361del
NR_144488.2:n.1101+263_1101+283del