Canonical Allele Identifier: CA2638296055

Gene: ACBD4

Linked Data

• gnomAD v4: 17-45143538-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45143541_45143542del , CM000679.2:g.45143541_45143542del	GRCh38
NC_000017.10:g.43220908_43220909del , CM000679.1:g.43220908_43220909del	GRCh37
NC_000017.9:g.40576691_40576692del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321854.13:c.888_889del MANE Select	ENSP00000314440.8:p.Phe297ProfsTer20
ENST00000321854.12:c.888_889del	ENSP00000314440.8:p.Phe297ProfsTer20
ENST00000398322.7:c.888_889del	ENSP00000381367.2:p.Phe297ProfsTer20
ENST00000431281.5:c.926_927del	ENSP00000405969.1:p.Ser309PhefsTer10
ENST00000585553.5:n.1606_1607del
ENST00000586346.5:c.926_927del	ENSP00000465484.1:p.Ser309PhefsTer10
ENST00000591859.5:c.926_927del	ENSP00000465610.1:p.Ser309PhefsTer10
ENST00000592162.5:c.748_749del	ENSP00000466305.1:p.Leu250SerfsTer?
NM_001135704.1:c.926_927del	NP_001129176.1:p.Ser309PhefsTer10
NM_001135705.1:c.888_889del	NP_001129177.1:p.Phe297ProfsTer20
NM_001135706.1:c.926_927del	NP_001129178.1:p.Ser309PhefsTer10
NM_024722.2:c.888_889del	NP_078998.1:p.Phe297ProfsTer20
XM_005257673.1:c.929_930del	XP_005257730.1:p.Ser310PhefsTer10
XM_005257674.1:c.929_930del	XP_005257731.1:p.Ser310PhefsTer10
XM_005257677.1:c.926_927del	XP_005257734.1:p.Ser309PhefsTer10
XM_006722085.1:c.891_892del	XP_006722148.1:p.Phe298ProfsTer20
XM_006722088.1:c.789_790del	XP_006722151.1:p.Phe264ProfsTer20
XM_006722089.1:c.751_752del	XP_006722152.1:p.Leu251SerfsTer?
XM_006722090.1:c.748_749del	XP_006722153.1:p.Leu250SerfsTer?
XM_011525255.1:c.929_930del	XP_011523557.1:p.Ser310PhefsTer10
XM_011525256.1:c.929_930del	XP_011523558.1:p.Ser310PhefsTer10
XM_011525257.1:c.786_787del	XP_011523559.1:p.Phe263ProfsTer20
NM_001135705.2:c.888_889del	NP_001129177.1:p.Phe297ProfsTer20
NM_001135706.2:c.926_927del	NP_001129178.1:p.Ser309PhefsTer10
NM_001135707.2:c.*931_*932del	NP_001129179.1:n.*931_*932del
NM_001321352.1:c.926_927del	NP_001308281.1:p.Ser309PhefsTer10
NM_001321353.1:c.926_927del	NP_001308282.1:p.Ser309PhefsTer10
NM_024722.3:c.888_889del	NP_078998.1:p.Phe297ProfsTer20
XM_006722085.2:c.891_892del	XP_006722148.1:p.Phe298ProfsTer20
XM_017025084.1:c.947_948del	XP_016880573.1:p.Ser316PhefsTer10
XM_017025085.1:c.947_948del	XP_016880574.1:p.Ser316PhefsTer10
XM_017025086.1:c.947_948del	XP_016880575.1:p.Ser316PhefsTer10
XM_017025087.1:c.929_930del	XP_016880576.1:p.Ser310PhefsTer10
XM_017025088.1:c.926_927del	XP_016880577.1:p.Ser309PhefsTer10
XM_017025089.2:c.*761_*762del	XP_016880578.1:n.*761_*762del
XM_017025090.1:c.909_910del	XP_016880579.1:p.Phe304ProfsTer20
XM_017025091.1:c.888_889del	XP_016880580.1:p.Phe297ProfsTer20
XM_017025092.2:c.888_889del	XP_016880581.1:p.Phe297ProfsTer20
XM_017025094.1:c.*931_*932del	XP_016880583.1:n.*931_*932del
XM_017025095.1:c.807_808del	XP_016880584.1:p.Phe270ProfsTer20
XM_017025096.1:c.769_770del	XP_016880585.1:p.Leu257SerfsTer?
XM_017025097.1:c.786_787del	XP_016880586.1:p.Phe263ProfsTer20
XM_017025098.1:c.786_787del	XP_016880587.1:p.Phe263ProfsTer20
XM_017025099.1:c.748_749del	XP_016880588.1:p.Leu250SerfsTer?
XM_024450949.1:c.*761_*762del	XP_024306717.1:n.*761_*762del
NM_001135705.3:c.888_889del MANE Select	NP_001129177.1:p.Phe297ProfsTer20
NM_001135706.3:c.926_927del	NP_001129178.1:p.Ser309PhefsTer10
NM_001135707.3:c.*931_*932del	NP_001129179.1:n.*931_*932del
NM_001321352.2:c.926_927del	NP_001308281.1:p.Ser309PhefsTer10
NM_001321353.2:c.926_927del	NP_001308282.1:p.Ser309PhefsTer10
NM_024722.4:c.888_889del	NP_078998.1:p.Phe297ProfsTer20
NM_001378111.1:c.*931_*932del	NP_001365040.1:n.*931_*932del
NM_001378112.1:c.*931_*932del	NP_001365041.1:n.*931_*932del