Canonical Allele Identifier: CA2576543804

Gene: ABCA7

Linked Data

• gnomAD v4: 19-1055915-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1055915_1055916insG , CM000681.2:g.1055915_1055916insG	GRCh38
NC_000019.9:g.1055914_1055915insG , CM000681.1:g.1055914_1055915insG	GRCh37
NC_000019.8:g.1006914_1006915insG	NCBI36
NG_046909.1:g.20813_20814insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.4214_4215insG MANE Select	ENSP00000263094.6:p.Lys1406Ter
ENST00000433129.6:n.4514_4515insG
ENST00000435683.7:c.1699_1700insG	ENSP00000465322.2:n.1699_1700insG
ENST00000263094.10:c.4214_4215insG	ENSP00000263094.6:p.Lys1406Ter
ENST00000433129.5:c.4214_4215insG	ENSP00000414062.1:p.Lys1406Ter
ENST00000435683.6:c.3800_3801insG	ENSP00000465322.1:p.Lys1268Ter
ENST00000530092.2:c.547_548insG
NM_019112.3:c.4214_4215insG	NP_061985.2:p.Lys1406Ter
XM_006722616.1:c.4214_4215insG	XP_006722679.1:p.Lys1406Ter
XM_006722617.2:c.4214_4215insG	XP_006722680.1:p.Lys1406Ter
XM_006722618.2:c.1871_1872insG	XP_006722681.1:p.Lys625Ter
XM_011527628.1:c.4214_4215insG	XP_011525930.1:p.Lys1406Ter
XM_011527629.1:c.4187_4188insG	XP_011525931.1:p.Lys1397Ter
XM_011527630.1:c.4214_4215insG	XP_011525932.1:p.Lys1406Ter
XM_011527631.1:c.4214_4215insG	XP_011525933.1:p.Lys1406Ter
XM_011527632.1:c.3758_3759insG	XP_011525934.1:p.Lys1254Ter
XM_011527633.1:c.4214_4215insG	XP_011525935.1:p.Lys1406Ter
XM_011527634.1:c.4214_4215insG	XP_011525936.1:p.Lys1406Ter
XM_011527635.1:c.4214_4215insG	XP_011525937.1:p.Lys1406Ter
XM_011527636.1:c.1871_1872insG	XP_011525938.1:p.Lys625Ter
XR_936148.1:n.4432_4433insG
XR_936149.1:n.4432_4433insG
XR_936150.1:n.4432_4433insG
XR_936151.1:n.4432_4433insG
XR_936152.1:n.4432_4433insG
XR_936153.1:n.4432_4433insG
XR_936154.1:n.4432_4433insG
XR_936155.1:n.4307_4308insG
XM_011527633.2:c.4214_4215insG	XP_011525935.1:p.Lys1406Ter
XM_017026143.1:c.4214_4215insG	XP_016881632.1:p.Lys1406Ter
XM_024451315.1:c.4214_4215insG	XP_024307083.1:p.Lys1406Ter
XM_024451316.1:c.4214_4215insG	XP_024307084.1:p.Lys1406Ter
XM_024451317.1:c.4187_4188insG	XP_024307085.1:p.Lys1397Ter
XM_024451318.1:c.4214_4215insG	XP_024307086.1:p.Lys1406Ter
XM_024451319.1:c.4214_4215insG	XP_024307087.1:p.Lys1406Ter
XM_024451320.1:c.3959_3960insG	XP_024307088.1:p.Lys1321Ter
XM_024451321.1:c.4214_4215insG	XP_024307089.1:p.Lys1406Ter
XM_024451322.1:c.3758_3759insG	XP_024307090.1:p.Lys1254Ter
XM_024451323.1:c.4214_4215insG	XP_024307091.1:p.Lys1406Ter
XM_024451324.1:c.1871_1872insG	XP_024307092.1:p.Lys625Ter
XM_024451325.1:c.1871_1872insG	XP_024307093.1:p.Lys625Ter
XR_001753585.1:n.4432_4433insG
XR_001753586.1:n.4432_4433insG
XR_002958240.1:n.4432_4433insG
XR_002958241.1:n.4432_4433insG
XR_002958242.1:n.4432_4433insG
NM_019112.4:c.4214_4215insG MANE Select	NP_061985.2:p.Lys1406Ter