Canonical Allele Identifier: CA2317489313
Gene: ABCA7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1056020_1056043delinsCCCCCCCGGCCCTCAGCTCCCCTT , CM000681.2:g.1056020_1056043delinsCCCCCCCGGCCCTCAGCTCCCCTT GRCh38
NC_000019.9:g.1056019_1056042delinsCCCCCCCGGCCCTCAGCTCCCCTT , CM000681.1:g.1056019_1056042delinsCCCCCCCGGCCCTCAGCTCCCCTT GRCh37
NC_000019.8:g.1007019_1007042delinsCCCCCCCGGCCCTCAGCTCCCCTT NCBI36
NG_046909.1:g.20918_20941delinsCCCCCCCGGCCCTCAGCTCCCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263094.11:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT MANE Select ENSP00000263094.6:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCC...
ENST00000433129.6:n.4539-46_4539-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
ENST00000435683.7:c.1724-46_1724-23delinsCCCCCCCGGCCCTCAGCTCCCCTT ENSP00000465322.2:n.1724-46_1724-23delinsCCCCCCCGGCCCTCAGCTCC...
ENST00000673773.1:n.36_59delinsCCCCCCCGGCCCTCAGCTCCCCTT
ENST00000263094.10:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT ENSP00000263094.6:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCC...
ENST00000433129.5:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT ENSP00000414062.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCC...
ENST00000435683.6:c.3825-46_3825-23delinsCCCCCCCGGCCCTCAGCTCCCCTT ENSP00000465322.1:n.3825-46_3825-23delinsCCCCCCCGGCCCTCAGCTCC...
NM_019112.3:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT NP_061985.2:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XM_006722616.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_006722679.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_006722617.2:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_006722680.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_006722618.2:c.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_006722681.1:n.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527628.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525930.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527629.1:c.4212-46_4212-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525931.1:n.4212-46_4212-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527630.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525932.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527631.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525933.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527632.1:c.3783-46_3783-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525934.1:n.3783-46_3783-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527633.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525935.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527634.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525936.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527635.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525937.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_011527636.1:c.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525938.1:n.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XR_936148.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_936149.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_936150.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_936151.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_936152.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_936153.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_936154.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XM_011527633.2:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_011525935.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_017026143.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_016881632.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451315.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307083.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451316.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307084.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451317.1:c.4212-46_4212-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307085.1:n.4212-46_4212-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451318.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307086.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451319.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307087.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451320.1:c.3984-46_3984-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307088.1:n.3984-46_3984-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451321.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307089.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451322.1:c.3783-46_3783-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307090.1:n.3783-46_3783-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451323.1:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307091.1:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451324.1:c.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307092.1:n.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XM_024451325.1:c.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCTT XP_024307093.1:n.1896-46_1896-23delinsCCCCCCCGGCCCTCAGCTCCCCT...
XR_001753585.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_001753586.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_002958240.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_002958241.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
XR_002958242.1:n.4457-46_4457-23delinsCCCCCCCGGCCCTCAGCTCCCCTT
NM_019112.4:c.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT MANE Select NP_061985.2:n.4239-46_4239-23delinsCCCCCCCGGCCCTCAGCTCCCCTT