Canonical Allele Identifier: CA9034378

Gene: ABCA7

Linked Data

• ClinVar Variation Id: 374415
• ClinVar RCV Id: RCV000415942 ; RCV003422384
• dbSNP Id: rs538591288
• ExAC: 19:1055907 CT / C
• gnomAD v2: 19-1055907-CT-C
• gnomAD v3: 19-1055908-CT-C
• gnomAD v4: 19-1055908-CT-C
• MyVariant Identifiers: chr19:g.1055908del (hg19) ; chr19:g.1055909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1055909del , CM000681.2:g.1055909del	GRCh38
NC_000019.9:g.1055908del , CM000681.1:g.1055908del	GRCh37
NC_000019.8:g.1006908del	NCBI36
NG_046909.1:g.20807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.4208del MANE Select	ENSP00000263094.6:p.Leu1403ArgfsTer7
ENST00000433129.6:n.4508del
ENST00000435683.7:c.1693del	ENSP00000465322.2:n.1693del
ENST00000263094.10:c.4208del	ENSP00000263094.6:p.Leu1403ArgfsTer7
ENST00000433129.5:c.4208del	ENSP00000414062.1:p.Leu1403ArgfsTer7
ENST00000435683.6:c.3794del	ENSP00000465322.1:p.Leu1265ArgfsTer7
ENST00000530092.2:c.541del
NM_019112.3:c.4208del	NP_061985.2:p.Leu1403ArgfsTer7
XM_006722616.1:c.4208del	XP_006722679.1:p.Leu1403ArgfsTer7
XM_006722617.2:c.4208del	XP_006722680.1:p.Leu1403ArgfsTer7
XM_006722618.2:c.1865del	XP_006722681.1:p.Leu622ArgfsTer7
XM_011527628.1:c.4208del	XP_011525930.1:p.Leu1403ArgfsTer7
XM_011527629.1:c.4181del	XP_011525931.1:p.Leu1394ArgfsTer7
XM_011527630.1:c.4208del	XP_011525932.1:p.Leu1403ArgfsTer7
XM_011527631.1:c.4208del	XP_011525933.1:p.Leu1403ArgfsTer7
XM_011527632.1:c.3752del	XP_011525934.1:p.Leu1251ArgfsTer7
XM_011527633.1:c.4208del	XP_011525935.1:p.Leu1403ArgfsTer7
XM_011527634.1:c.4208del	XP_011525936.1:p.Leu1403ArgfsTer7
XM_011527635.1:c.4208del	XP_011525937.1:p.Leu1403ArgfsTer7
XM_011527636.1:c.1865del	XP_011525938.1:p.Leu622ArgfsTer7
XR_936148.1:n.4426del
XR_936149.1:n.4426del
XR_936150.1:n.4426del
XR_936151.1:n.4426del
XR_936152.1:n.4426del
XR_936153.1:n.4426del
XR_936154.1:n.4426del
XR_936155.1:n.4301del
XM_011527633.2:c.4208del	XP_011525935.1:p.Leu1403ArgfsTer7
XM_017026143.1:c.4208del	XP_016881632.1:p.Leu1403ArgfsTer7
XM_024451315.1:c.4208del	XP_024307083.1:p.Leu1403ArgfsTer7
XM_024451316.1:c.4208del	XP_024307084.1:p.Leu1403ArgfsTer7
XM_024451317.1:c.4181del	XP_024307085.1:p.Leu1394ArgfsTer7
XM_024451318.1:c.4208del	XP_024307086.1:p.Leu1403ArgfsTer7
XM_024451319.1:c.4208del	XP_024307087.1:p.Leu1403ArgfsTer7
XM_024451320.1:c.3953del	XP_024307088.1:p.Leu1318ArgfsTer7
XM_024451321.1:c.4208del	XP_024307089.1:p.Leu1403ArgfsTer7
XM_024451322.1:c.3752del	XP_024307090.1:p.Leu1251ArgfsTer7
XM_024451323.1:c.4208del	XP_024307091.1:p.Leu1403ArgfsTer7
XM_024451324.1:c.1865del	XP_024307092.1:p.Leu622ArgfsTer7
XM_024451325.1:c.1865del	XP_024307093.1:p.Leu622ArgfsTer7
XR_001753585.1:n.4426del
XR_001753586.1:n.4426del
XR_002958240.1:n.4426del
XR_002958241.1:n.4426del
XR_002958242.1:n.4426del
NM_019112.4:c.4208del MANE Select	NP_061985.2:p.Leu1403ArgfsTer7