Canonical Allele Identifier: CA2838207591

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4781711dup , CM000669.2:g.4781711dup	GRCh38
NC_000007.13:g.4821342dup , CM000669.1:g.4821342dup	GRCh37
NC_000007.12:g.4787868dup	NCBI36
NG_028111.1:g.11081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.125-1605dup
ENST00000496303.6:n.99dup
ENST00000647984.1:c.179+399dup	ENSP00000497794.1:n.179+399dup
ENST00000648925.1:c.323dup	ENSP00000496830.1:p.Asn108LysfsTer17
ENST00000649063.2:c.323dup MANE Select	ENSP00000497815.1:p.Asn108LysfsTer17
ENST00000650310.1:c.323dup	ENSP00000497395.1:p.Asn108LysfsTer17
ENST00000650451.1:c.179+399dup	ENSP00000496998.1:n.179+399dup
ENST00000348624.4:c.323dup	ENSP00000297562.4:p.Asn108LysfsTer17
ENST00000477680.5:n.125-1605dup
ENST00000496303.5:n.387dup
NM_014855.2:c.323dup	NP_055670.1:p.Asn108LysfsTer17
XR_242109.1:n.348dup
NM_001364858.1:c.-103+399dup	NP_001351787.1:n.-103+399dup
NM_014855.3:c.323dup MANE Select	NP_055670.1:p.Asn108LysfsTer17
NR_157345.1:n.416dup