Canonical Allele Identifier: CA2638296229

Gene: ACBD4

Linked Data

• gnomAD v4: 17-45143600-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45143601_45143602del , CM000679.2:g.45143601_45143602del	GRCh38
NC_000017.10:g.43220968_43220969del , CM000679.1:g.43220968_43220969del	GRCh37
NC_000017.9:g.40576751_40576752del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321854.13:c.*30_*31del MANE Select	ENSP00000314440.8:n.*30_*31del
ENST00000321854.12:c.*30_*31del	ENSP00000314440.8:n.*30_*31del
ENST00000398322.7:c.*30_*31del	ENSP00000381367.2:n.*30_*31del
ENST00000431281.5:c.986_987del	ENSP00000405969.1:p.Leu329GlnfsTer11
ENST00000585553.5:n.1666_1667del
ENST00000586346.5:c.986_987del	ENSP00000465484.1:p.Leu329GlnfsTer11
ENST00000591859.5:c.986_987del	ENSP00000465610.1:p.Leu329GlnfsTer11
ENST00000592162.5:c.808_809del	ENSP00000466305.1:p.Ter270ArgextTer13
NM_001135704.1:c.986_987del	NP_001129176.1:p.Leu329GlnfsTer11
NM_001135705.1:c.*30_*31del	NP_001129177.1:n.*30_*31del
NM_001135706.1:c.986_987del	NP_001129178.1:p.Leu329GlnfsTer11
NM_024722.2:c.*30_*31del	NP_078998.1:n.*30_*31del
XM_005257673.1:c.989_990del	XP_005257730.1:p.Leu330GlnfsTer11
XM_005257674.1:c.989_990del	XP_005257731.1:p.Leu330GlnfsTer11
XM_005257677.1:c.986_987del	XP_005257734.1:p.Leu329GlnfsTer11
XM_006722085.1:c.*30_*31del	XP_006722148.1:n.*30_*31del
XM_006722088.1:c.*30_*31del	XP_006722151.1:n.*30_*31del
XM_006722089.1:c.811_812del	XP_006722152.1:p.Ter271ArgextTer13
XM_006722090.1:c.808_809del	XP_006722153.1:p.Ter270ArgextTer13
XM_011525255.1:c.989_990del	XP_011523557.1:p.Leu330GlnfsTer11
XM_011525256.1:c.989_990del	XP_011523558.1:p.Leu330GlnfsTer11
XM_011525257.1:c.*30_*31del	XP_011523559.1:n.*30_*31del
NM_001135705.2:c.*30_*31del	NP_001129177.1:n.*30_*31del
NM_001135706.2:c.986_987del	NP_001129178.1:p.Leu329GlnfsTer11
NM_001135707.2:c.*991_*992del	NP_001129179.1:n.*991_*992del
NM_001321352.1:c.986_987del	NP_001308281.1:p.Leu329GlnfsTer11
NM_001321353.1:c.986_987del	NP_001308282.1:p.Leu329GlnfsTer11
NM_024722.3:c.*30_*31del	NP_078998.1:n.*30_*31del
XM_006722085.2:c.*30_*31del	XP_006722148.1:n.*30_*31del
XM_017025084.1:c.1007_1008del	XP_016880573.1:p.Leu336GlnfsTer11
XM_017025085.1:c.1007_1008del	XP_016880574.1:p.Leu336GlnfsTer11
XM_017025086.1:c.1007_1008del	XP_016880575.1:p.Leu336GlnfsTer11
XM_017025087.1:c.989_990del	XP_016880576.1:p.Leu330GlnfsTer11
XM_017025088.1:c.986_987del	XP_016880577.1:p.Leu329GlnfsTer11
XM_017025089.2:c.*821_*822del	XP_016880578.1:n.*821_*822del
XM_017025090.1:c.*30_*31del	XP_016880579.1:n.*30_*31del
XM_017025091.1:c.*30_*31del	XP_016880580.1:n.*30_*31del
XM_017025092.2:c.*30_*31del	XP_016880581.1:n.*30_*31del
XM_017025094.1:c.*991_*992del	XP_016880583.1:n.*991_*992del
XM_017025095.1:c.*30_*31del	XP_016880584.1:n.*30_*31del
XM_017025096.1:c.829_830del	XP_016880585.1:p.Ter277ArgextTer13
XM_017025097.1:c.*30_*31del	XP_016880586.1:n.*30_*31del
XM_017025098.1:c.*30_*31del	XP_016880587.1:n.*30_*31del
XM_017025099.1:c.808_809del	XP_016880588.1:p.Ter270ArgextTer13
XM_024450949.1:c.*821_*822del	XP_024306717.1:n.*821_*822del
NM_001135705.3:c.*30_*31del MANE Select	NP_001129177.1:n.*30_*31del
NM_001135706.3:c.986_987del	NP_001129178.1:p.Leu329GlnfsTer11
NM_001135707.3:c.*991_*992del	NP_001129179.1:n.*991_*992del
NM_001321352.2:c.986_987del	NP_001308281.1:p.Leu329GlnfsTer11
NM_001321353.2:c.986_987del	NP_001308282.1:p.Leu329GlnfsTer11
NM_024722.4:c.*30_*31del	NP_078998.1:n.*30_*31del
NM_001378111.1:c.*991_*992del	NP_001365040.1:n.*991_*992del
NM_001378112.1:c.*991_*992del	NP_001365041.1:n.*991_*992del