Canonical Allele Identifier: CA2317479166
Gene: ABCA7 HGNC NCBI

Linked Data

dbSNP Id: rs2039998555

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1041175_1041176insGTGTATCAACAGG , CM000681.2:g.1041175_1041176insGTGTATCAACAGG GRCh38
NC_000019.9:g.1041174_1041175insGTGTATCAACAGG , CM000681.1:g.1041174_1041175insGTGTATCAACAGG GRCh37
NC_000019.8:g.992174_992175insGTGTATCAACAGG NCBI36
NG_046909.1:g.6073_6074insGTGTATCAACAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000263094.11:c.-137-50_-137-49insGTGTATCAACAGG MANE Select ENSP00000263094.6:n.-137-50_-137-49insGTGTATCAACAGG
ENST00000433129.6:n.201-50_201-49insGTGTATCAACAGG
ENST00000263094.10:c.-137-50_-137-49insGTGTATCAACAGG ENSP00000263094.6:n.-137-50_-137-49insGTGTATCAACAGG
ENST00000524850.5:c.-7-180_-7-179insGTGTATCAACAGG ENSP00000431473.1:n.-7-180_-7-179insGTGTATCAACAGG
ENST00000525238.2:n.80-50_80-49insGTGTATCAACAGG
ENST00000526885.5:n.95-50_95-49insGTGTATCAACAGG
ENST00000530703.1:n.82-50_82-49insGTGTATCAACAGG
ENST00000611490.4:c.-137-50_-137-49insGTGTATCAACAGG ENSP00000478857.1:n.-137-50_-137-49insGTGTATCAACAGG
NM_019112.3:c.-137-50_-137-49insGTGTATCAACAGG NP_061985.2:n.-137-50_-137-49insGTGTATCAACAGG
XM_006722616.1:c.-137-50_-137-49insGTGTATCAACAGG XP_006722679.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_006722617.2:c.-137-50_-137-49insGTGTATCAACAGG XP_006722680.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_011527628.1:c.-7-180_-7-179insGTGTATCAACAGG XP_011525930.1:n.-7-180_-7-179insGTGTATCAACAGG
XM_011527629.1:c.-137-50_-137-49insGTGTATCAACAGG XP_011525931.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_011527630.1:c.-137-50_-137-49insGTGTATCAACAGG XP_011525932.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_011527631.1:c.-137-50_-137-49insGTGTATCAACAGG XP_011525933.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_011527633.1:c.-137-50_-137-49insGTGTATCAACAGG XP_011525935.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_011527634.1:c.-137-50_-137-49insGTGTATCAACAGG XP_011525936.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_011527635.1:c.-137-50_-137-49insGTGTATCAACAGG XP_011525937.1:n.-137-50_-137-49insGTGTATCAACAGG
XR_936148.1:n.82-50_82-49insGTGTATCAACAGG
XR_936149.1:n.82-50_82-49insGTGTATCAACAGG
XR_936150.1:n.82-50_82-49insGTGTATCAACAGG
XR_936151.1:n.82-50_82-49insGTGTATCAACAGG
XR_936152.1:n.82-50_82-49insGTGTATCAACAGG
XR_936153.1:n.82-50_82-49insGTGTATCAACAGG
XR_936154.1:n.82-50_82-49insGTGTATCAACAGG
XR_936155.1:n.82-50_82-49insGTGTATCAACAGG
XM_011527633.2:c.-137-50_-137-49insGTGTATCAACAGG XP_011525935.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_017026143.1:c.-137-50_-137-49insGTGTATCAACAGG XP_016881632.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_024451315.1:c.-137-50_-137-49insGTGTATCAACAGG XP_024307083.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_024451316.1:c.-7-180_-7-179insGTGTATCAACAGG XP_024307084.1:n.-7-180_-7-179insGTGTATCAACAGG
XM_024451317.1:c.-137-50_-137-49insGTGTATCAACAGG XP_024307085.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_024451318.1:c.-137-50_-137-49insGTGTATCAACAGG XP_024307086.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_024451319.1:c.-137-50_-137-49insGTGTATCAACAGG XP_024307087.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_024451320.1:c.-137-50_-137-49insGTGTATCAACAGG XP_024307088.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_024451321.1:c.-137-50_-137-49insGTGTATCAACAGG XP_024307089.1:n.-137-50_-137-49insGTGTATCAACAGG
XM_024451323.1:c.-137-50_-137-49insGTGTATCAACAGG XP_024307091.1:n.-137-50_-137-49insGTGTATCAACAGG
XR_001753585.1:n.82-50_82-49insGTGTATCAACAGG
XR_001753586.1:n.82-50_82-49insGTGTATCAACAGG
XR_002958240.1:n.82-50_82-49insGTGTATCAACAGG
XR_002958241.1:n.82-50_82-49insGTGTATCAACAGG
XR_002958242.1:n.82-50_82-49insGTGTATCAACAGG
NM_019112.4:c.-137-50_-137-49insGTGTATCAACAGG MANE Select NP_061985.2:n.-137-50_-137-49insGTGTATCAACAGG