Canonical Allele Identifier: CA9034381

Gene: ABCA7

Linked Data

• dbSNP Id: rs781175163
• ExAC: 19:1055916 AAG / A
• gnomAD v2: 19-1055916-AAG-A
• gnomAD v4: 19-1055917-AAG-A
• MyVariant Identifiers: chr19:g.1055917_1055918del (hg19) ; chr19:g.1055918_1055919del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1055919_1055920del , CM000681.2:g.1055919_1055920del	GRCh38
NC_000019.9:g.1055918_1055919del , CM000681.1:g.1055918_1055919del	GRCh37
NC_000019.8:g.1006918_1006919del	NCBI36
NG_046909.1:g.20817_20818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.4218_4219del MANE Select	ENSP00000263094.6:p.Lys1407ValfsTer4
ENST00000433129.6:n.4518_4519del
ENST00000435683.7:c.1703_1704del	ENSP00000465322.2:n.1703_1704del
ENST00000263094.10:c.4218_4219del	ENSP00000263094.6:p.Lys1407ValfsTer4
ENST00000433129.5:c.4218_4219del	ENSP00000414062.1:p.Lys1407ValfsTer4
ENST00000435683.6:c.3804_3805del	ENSP00000465322.1:p.Lys1269ValfsTer4
ENST00000530092.2:c.551_552del
NM_019112.3:c.4218_4219del	NP_061985.2:p.Lys1407ValfsTer4
XM_006722616.1:c.4218_4219del	XP_006722679.1:p.Lys1407ValfsTer4
XM_006722617.2:c.4218_4219del	XP_006722680.1:p.Lys1407ValfsTer4
XM_006722618.2:c.1875_1876del	XP_006722681.1:p.Lys626ValfsTer4
XM_011527628.1:c.4218_4219del	XP_011525930.1:p.Lys1407ValfsTer4
XM_011527629.1:c.4191_4192del	XP_011525931.1:p.Lys1398ValfsTer4
XM_011527630.1:c.4218_4219del	XP_011525932.1:p.Lys1407ValfsTer4
XM_011527631.1:c.4218_4219del	XP_011525933.1:p.Lys1407ValfsTer4
XM_011527632.1:c.3762_3763del	XP_011525934.1:p.Lys1255ValfsTer4
XM_011527633.1:c.4218_4219del	XP_011525935.1:p.Lys1407ValfsTer4
XM_011527634.1:c.4218_4219del	XP_011525936.1:p.Lys1407ValfsTer4
XM_011527635.1:c.4218_4219del	XP_011525937.1:p.Lys1407ValfsTer4
XM_011527636.1:c.1875_1876del	XP_011525938.1:p.Lys626ValfsTer4
XR_936148.1:n.4436_4437del
XR_936149.1:n.4436_4437del
XR_936150.1:n.4436_4437del
XR_936151.1:n.4436_4437del
XR_936152.1:n.4436_4437del
XR_936153.1:n.4436_4437del
XR_936154.1:n.4436_4437del
XR_936155.1:n.4311_4312del
XM_011527633.2:c.4218_4219del	XP_011525935.1:p.Lys1407ValfsTer4
XM_017026143.1:c.4218_4219del	XP_016881632.1:p.Lys1407ValfsTer4
XM_024451315.1:c.4218_4219del	XP_024307083.1:p.Lys1407ValfsTer4
XM_024451316.1:c.4218_4219del	XP_024307084.1:p.Lys1407ValfsTer4
XM_024451317.1:c.4191_4192del	XP_024307085.1:p.Lys1398ValfsTer4
XM_024451318.1:c.4218_4219del	XP_024307086.1:p.Lys1407ValfsTer4
XM_024451319.1:c.4218_4219del	XP_024307087.1:p.Lys1407ValfsTer4
XM_024451320.1:c.3963_3964del	XP_024307088.1:p.Lys1322ValfsTer4
XM_024451321.1:c.4218_4219del	XP_024307089.1:p.Lys1407ValfsTer4
XM_024451322.1:c.3762_3763del	XP_024307090.1:p.Lys1255ValfsTer4
XM_024451323.1:c.4218_4219del	XP_024307091.1:p.Lys1407ValfsTer4
XM_024451324.1:c.1875_1876del	XP_024307092.1:p.Lys626ValfsTer4
XM_024451325.1:c.1875_1876del	XP_024307093.1:p.Lys626ValfsTer4
XR_001753585.1:n.4436_4437del
XR_001753586.1:n.4436_4437del
XR_002958240.1:n.4436_4437del
XR_002958241.1:n.4436_4437del
XR_002958242.1:n.4436_4437del
NM_019112.4:c.4218_4219del MANE Select	NP_061985.2:p.Lys1407ValfsTer4