Canonical Allele Identifier: CA631039351

Gene: ABCA7

Linked Data

• dbSNP Id: rs1348174908
• gnomAD v2: 19-1056019-CCCCCCCGGCCCTCAGCTCCCCTT-C
• gnomAD v3: 19-1056020-CCCCCCCGGCCCTCAGCTCCCCTT-C
• gnomAD v4: 19-1056020-CCCCCCCGGCCCTCAGCTCCCCTT-C
• MyVariant Identifiers: chr19:g.1056020_1056042del (hg19) ; chr19:g.1056021_1056043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1056024_1056046del , CM000681.2:g.1056024_1056046del	GRCh38
NC_000019.9:g.1056023_1056045del , CM000681.1:g.1056023_1056045del	GRCh37
NC_000019.8:g.1007023_1007045del	NCBI36
NG_046909.1:g.20922_20944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.4239-42_4239-20del MANE Select	ENSP00000263094.6:n.4239-42_4239-20del
ENST00000433129.6:n.4539-42_4539-20del
ENST00000435683.7:c.1724-42_1724-20del	ENSP00000465322.2:n.1724-42_1724-20del
ENST00000673773.1:n.40_62del
ENST00000263094.10:c.4239-42_4239-20del	ENSP00000263094.6:n.4239-42_4239-20del
ENST00000433129.5:c.4239-42_4239-20del	ENSP00000414062.1:n.4239-42_4239-20del
ENST00000435683.6:c.3825-42_3825-20del	ENSP00000465322.1:n.3825-42_3825-20del
NM_019112.3:c.4239-42_4239-20del	NP_061985.2:n.4239-42_4239-20del
XM_006722616.1:c.4239-42_4239-20del	XP_006722679.1:n.4239-42_4239-20del
XM_006722617.2:c.4239-42_4239-20del	XP_006722680.1:n.4239-42_4239-20del
XM_006722618.2:c.1896-42_1896-20del	XP_006722681.1:n.1896-42_1896-20del
XM_011527628.1:c.4239-42_4239-20del	XP_011525930.1:n.4239-42_4239-20del
XM_011527629.1:c.4212-42_4212-20del	XP_011525931.1:n.4212-42_4212-20del
XM_011527630.1:c.4239-42_4239-20del	XP_011525932.1:n.4239-42_4239-20del
XM_011527631.1:c.4239-42_4239-20del	XP_011525933.1:n.4239-42_4239-20del
XM_011527632.1:c.3783-42_3783-20del	XP_011525934.1:n.3783-42_3783-20del
XM_011527633.1:c.4239-42_4239-20del	XP_011525935.1:n.4239-42_4239-20del
XM_011527634.1:c.4239-42_4239-20del	XP_011525936.1:n.4239-42_4239-20del
XM_011527635.1:c.4239-42_4239-20del	XP_011525937.1:n.4239-42_4239-20del
XM_011527636.1:c.1896-42_1896-20del	XP_011525938.1:n.1896-42_1896-20del
XR_936148.1:n.4457-42_4457-20del
XR_936149.1:n.4457-42_4457-20del
XR_936150.1:n.4457-42_4457-20del
XR_936151.1:n.4457-42_4457-20del
XR_936152.1:n.4457-42_4457-20del
XR_936153.1:n.4457-42_4457-20del
XR_936154.1:n.4457-42_4457-20del
XM_011527633.2:c.4239-42_4239-20del	XP_011525935.1:n.4239-42_4239-20del
XM_017026143.1:c.4239-42_4239-20del	XP_016881632.1:n.4239-42_4239-20del
XM_024451315.1:c.4239-42_4239-20del	XP_024307083.1:n.4239-42_4239-20del
XM_024451316.1:c.4239-42_4239-20del	XP_024307084.1:n.4239-42_4239-20del
XM_024451317.1:c.4212-42_4212-20del	XP_024307085.1:n.4212-42_4212-20del
XM_024451318.1:c.4239-42_4239-20del	XP_024307086.1:n.4239-42_4239-20del
XM_024451319.1:c.4239-42_4239-20del	XP_024307087.1:n.4239-42_4239-20del
XM_024451320.1:c.3984-42_3984-20del	XP_024307088.1:n.3984-42_3984-20del
XM_024451321.1:c.4239-42_4239-20del	XP_024307089.1:n.4239-42_4239-20del
XM_024451322.1:c.3783-42_3783-20del	XP_024307090.1:n.3783-42_3783-20del
XM_024451323.1:c.4239-42_4239-20del	XP_024307091.1:n.4239-42_4239-20del
XM_024451324.1:c.1896-42_1896-20del	XP_024307092.1:n.1896-42_1896-20del
XM_024451325.1:c.1896-42_1896-20del	XP_024307093.1:n.1896-42_1896-20del
XR_001753585.1:n.4457-42_4457-20del
XR_001753586.1:n.4457-42_4457-20del
XR_002958240.1:n.4457-42_4457-20del
XR_002958241.1:n.4457-42_4457-20del
XR_002958242.1:n.4457-42_4457-20del
NM_019112.4:c.4239-42_4239-20del MANE Select	NP_061985.2:n.4239-42_4239-20del