Canonical Allele Identifier: CA2588188613

Gene: ABCA7

Linked Data

• gnomAD v4: 19-1056038-CCCCTTCCCTGCCTGCATGGCCCCACAGATACGGAGGCTTCTCGCTGGGGGGCCGAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1056042_1056098del , CM000681.2:g.1056042_1056098del	GRCh38
NC_000019.9:g.1056041_1056097del , CM000681.1:g.1056041_1056097del	GRCh37
NC_000019.8:g.1007041_1007097del	NCBI36
NG_046909.1:g.20940_20996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.4239-24_4271del
ENST00000433129.6:n.4539-24_4571del
ENST00000435683.7:c.1724-24_1756del
ENST00000673773.1:n.58_114del
ENST00000263094.10:c.4239-24_4271del
ENST00000433129.5:c.4239-24_4271del
ENST00000435683.6:c.3825-24_3857del
NM_019112.3:c.4239-24_4271del
XM_006722616.1:c.4239-24_4271del
XM_006722617.2:c.4239-24_4271del
XM_006722618.2:c.1896-24_1928del
XM_011527628.1:c.4239-24_4271del
XM_011527629.1:c.4212-24_4244del
XM_011527630.1:c.4239-24_4271del
XM_011527631.1:c.4239-24_4271del
XM_011527632.1:c.3783-24_3815del
XM_011527633.1:c.4239-24_4271del
XM_011527634.1:c.4239-24_4271del
XM_011527635.1:c.4239-24_4271del
XM_011527636.1:c.1896-24_1928del
XR_936148.1:n.4457-24_4489del
XR_936149.1:n.4457-24_4489del
XR_936150.1:n.4457-24_4489del
XR_936151.1:n.4457-24_4489del
XR_936152.1:n.4457-24_4489del
XR_936153.1:n.4457-24_4489del
XR_936154.1:n.4457-24_4489del
XM_011527633.2:c.4239-24_4271del
XM_017026143.1:c.4239-24_4271del
XM_024451315.1:c.4239-24_4271del
XM_024451316.1:c.4239-24_4271del
XM_024451317.1:c.4212-24_4244del
XM_024451318.1:c.4239-24_4271del
XM_024451319.1:c.4239-24_4271del
XM_024451320.1:c.3984-24_4016del
XM_024451321.1:c.4239-24_4271del
XM_024451322.1:c.3783-24_3815del
XM_024451323.1:c.4239-24_4271del
XM_024451324.1:c.1896-24_1928del
XM_024451325.1:c.1896-24_1928del
XR_001753585.1:n.4457-24_4489del
XR_001753586.1:n.4457-24_4489del
XR_002958240.1:n.4457-24_4489del
XR_002958241.1:n.4457-24_4489del
XR_002958242.1:n.4457-24_4489del
NM_019112.4:c.4239-24_4271del