Canonical Allele Identifier: CA1181418857
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062722_94062723delinsCG , CM000663.2:g.94062722_94062723delinsCG GRCh38
NC_000001.10:g.94528278_94528279delinsCG , CM000663.1:g.94528278_94528279delinsCG GRCh37
NC_000001.9:g.94300866_94300867delinsCG NCBI36
NG_009073.1:g.63427_63428delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1791_1792delinsCG MANE Select ENSP00000359245.3:p.Pro597=
ENST00000649773.1:c.1791_1792delinsCG ENSP00000496882.1:p.Pro597=
ENST00000370225.3:c.1791_1792delinsCG ENSP00000359245.3:p.Pro597=
ENST00000536513.5:c.-65+451_-65+452delinsCG ENSP00000439707.2:n.-65+451_-65+452delinsCG
NM_000350.2:c.1791_1792delinsCG NP_000341.2:p.Pro597=
NM_000350.3:c.1791_1792delinsCG MANE Select NP_000341.2:p.Pro597=
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