Canonical Allele Identifier: CA625780423

Gene: ADAP2

Linked Data

• dbSNP Id: rs1217126181
• gnomAD v2: 17-29283846-GTTA-G
• gnomAD v3: 17-30956828-GTTA-G
• gnomAD v4: 17-30956828-GTTA-G
• MyVariant Identifiers: chr17:g.29283847_29283849del (hg19) ; chr17:g.30956829_30956831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956835_30956837del , CM000679.2:g.30956835_30956837del	GRCh38
NC_000017.10:g.29283853_29283855del , CM000679.1:g.29283853_29283855del	GRCh37
NC_000017.9:g.26307979_26307981del	NCBI36
NG_051975.1:g.40100_40102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1111+366_1111+368del MANE Select	ENSP00000329468.3:n.1111+366_1111+368del
ENST00000330889.7:c.1111+366_1111+368del	ENSP00000329468.3:n.1111+366_1111+368del
ENST00000470962.1:n.531+366_531+368del
ENST00000580525.5:c.1129+366_1129+368del	ENSP00000464121.1:n.1129+366_1129+368del
ENST00000584828.5:c.402+444_402+446del
ENST00000585130.5:c.*710+366_*710+368del	ENSP00000464120.1:n.*710+366_*710+368del
NM_018404.2:c.1111+366_1111+368del	NP_060874.1:n.1111+366_1111+368del
XM_005258008.2:c.1129+366_1129+368del	XP_005258065.1:n.1129+366_1129+368del
XM_005258011.2:c.1066+366_1066+368del	XP_005258068.1:n.1066+366_1066+368del
XM_006721973.2:c.1051+444_1051+446del	XP_006722036.1:n.1051+444_1051+446del
XM_011524993.1:c.1126+366_1126+368del	XP_011523295.1:n.1126+366_1126+368del
XM_011524994.1:c.1108+366_1108+368del	XP_011523296.1:n.1108+366_1108+368del
NM_001346712.1:c.1129+366_1129+368del	NP_001333641.1:n.1129+366_1129+368del
NM_001346714.1:c.1108+366_1108+368del	NP_001333643.1:n.1108+366_1108+368del
NM_001346716.1:c.1033+444_1033+446del	NP_001333645.1:n.1033+444_1033+446del
NR_144488.1:n.1310+366_1310+368del
XM_024450832.1:c.1126+366_1126+368del	XP_024306600.1:n.1126+366_1126+368del
XM_024450833.1:c.1066+366_1066+368del	XP_024306601.1:n.1066+366_1066+368del
XM_024450834.1:c.1051+444_1051+446del	XP_024306602.1:n.1051+444_1051+446del
XM_024450835.1:c.745+366_745+368del	XP_024306603.1:n.745+366_745+368del
NM_018404.3:c.1111+366_1111+368del MANE Select	NP_060874.1:n.1111+366_1111+368del
NM_001346712.2:c.1129+366_1129+368del	NP_001333641.1:n.1129+366_1129+368del
NM_001346714.2:c.1108+366_1108+368del	NP_001333643.1:n.1108+366_1108+368del
NM_001346716.2:c.1033+444_1033+446del	NP_001333645.1:n.1033+444_1033+446del
NR_144488.2:n.1101+366_1101+368del