Canonical Allele Identifier: CA1140725938
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021311_94021314delinsGGGG , CM000663.2:g.94021311_94021314delinsGGGG GRCh38
NC_000001.10:g.94486867_94486870delinsGGGG , CM000663.1:g.94486867_94486870delinsGGGG GRCh37
NC_000001.9:g.94259455_94259458delinsGGGG NCBI36
NG_009073.1:g.104836_104839delinsCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4944_4947delinsCCCC MANE Select ENSP00000359245.3:p.Ser1648=
ENST00000370225.3:c.4944_4947delinsCCCC ENSP00000359245.3:p.Ser1648=
ENST00000460514.1:n.438_441delinsCCCC
ENST00000470771.1:n.54_57delinsCCCC
ENST00000536513.5:c.1320_1323delinsCCCC ENSP00000439707.2:p.Ser440=
NM_000350.2:c.4944_4947delinsCCCC NP_000341.2:p.Ser1648=
NM_000350.3:c.4944_4947delinsCCCC MANE Select NP_000341.2:p.Ser1648=
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