Canonical Allele Identifier: CA2317489258

Gene: ABCA7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1055917_1055919delinsAAG , CM000681.2:g.1055917_1055919delinsAAG	GRCh38
NC_000019.9:g.1055916_1055918delinsAAG , CM000681.1:g.1055916_1055918delinsAAG	GRCh37
NC_000019.8:g.1006916_1006918delinsAAG	NCBI36
NG_046909.1:g.20815_20817delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.4216_4218delinsAAG MANE Select	ENSP00000263094.6:p.Lys1406=
ENST00000433129.6:n.4516_4518delinsAAG
ENST00000435683.7:c.1701_1703delinsAAG	ENSP00000465322.2:n.1701_1703delinsAAG
ENST00000263094.10:c.4216_4218delinsAAG	ENSP00000263094.6:p.Lys1406=
ENST00000433129.5:c.4216_4218delinsAAG	ENSP00000414062.1:p.Lys1406=
ENST00000435683.6:c.3802_3804delinsAAG	ENSP00000465322.1:p.Lys1268=
ENST00000530092.2:c.549_551delinsAAG
NM_019112.3:c.4216_4218delinsAAG	NP_061985.2:p.Lys1406=
XM_006722616.1:c.4216_4218delinsAAG	XP_006722679.1:p.Lys1406=
XM_006722617.2:c.4216_4218delinsAAG	XP_006722680.1:p.Lys1406=
XM_006722618.2:c.1873_1875delinsAAG	XP_006722681.1:p.Lys625=
XM_011527628.1:c.4216_4218delinsAAG	XP_011525930.1:p.Lys1406=
XM_011527629.1:c.4189_4191delinsAAG	XP_011525931.1:p.Lys1397=
XM_011527630.1:c.4216_4218delinsAAG	XP_011525932.1:p.Lys1406=
XM_011527631.1:c.4216_4218delinsAAG	XP_011525933.1:p.Lys1406=
XM_011527632.1:c.3760_3762delinsAAG	XP_011525934.1:p.Lys1254=
XM_011527633.1:c.4216_4218delinsAAG	XP_011525935.1:p.Lys1406=
XM_011527634.1:c.4216_4218delinsAAG	XP_011525936.1:p.Lys1406=
XM_011527635.1:c.4216_4218delinsAAG	XP_011525937.1:p.Lys1406=
XM_011527636.1:c.1873_1875delinsAAG	XP_011525938.1:p.Lys625=
XR_936148.1:n.4434_4436delinsAAG
XR_936149.1:n.4434_4436delinsAAG
XR_936150.1:n.4434_4436delinsAAG
XR_936151.1:n.4434_4436delinsAAG
XR_936152.1:n.4434_4436delinsAAG
XR_936153.1:n.4434_4436delinsAAG
XR_936154.1:n.4434_4436delinsAAG
XR_936155.1:n.4309_4311delinsAAG
XM_011527633.2:c.4216_4218delinsAAG	XP_011525935.1:p.Lys1406=
XM_017026143.1:c.4216_4218delinsAAG	XP_016881632.1:p.Lys1406=
XM_024451315.1:c.4216_4218delinsAAG	XP_024307083.1:p.Lys1406=
XM_024451316.1:c.4216_4218delinsAAG	XP_024307084.1:p.Lys1406=
XM_024451317.1:c.4189_4191delinsAAG	XP_024307085.1:p.Lys1397=
XM_024451318.1:c.4216_4218delinsAAG	XP_024307086.1:p.Lys1406=
XM_024451319.1:c.4216_4218delinsAAG	XP_024307087.1:p.Lys1406=
XM_024451320.1:c.3961_3963delinsAAG	XP_024307088.1:p.Lys1321=
XM_024451321.1:c.4216_4218delinsAAG	XP_024307089.1:p.Lys1406=
XM_024451322.1:c.3760_3762delinsAAG	XP_024307090.1:p.Lys1254=
XM_024451323.1:c.4216_4218delinsAAG	XP_024307091.1:p.Lys1406=
XM_024451324.1:c.1873_1875delinsAAG	XP_024307092.1:p.Lys625=
XM_024451325.1:c.1873_1875delinsAAG	XP_024307093.1:p.Lys625=
XR_001753585.1:n.4434_4436delinsAAG
XR_001753586.1:n.4434_4436delinsAAG
XR_002958240.1:n.4434_4436delinsAAG
XR_002958241.1:n.4434_4436delinsAAG
XR_002958242.1:n.4434_4436delinsAAG
NM_019112.4:c.4216_4218delinsAAG MANE Select	NP_061985.2:p.Lys1406=