Canonical Allele Identifier: CA1181414936
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030489_94030490delinsCA , CM000663.2:g.94030489_94030490delinsCA GRCh38
NC_000001.10:g.94496045_94496046delinsCA , CM000663.1:g.94496045_94496046delinsCA GRCh37
NC_000001.9:g.94268633_94268634delinsCA NCBI36
NG_009073.1:g.95660_95661delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4290_4291delinsTG MANE Select ENSP00000359245.3:p.Leu1430=
ENST00000370225.3:c.4290_4291delinsTG ENSP00000359245.3:p.Leu1430=
ENST00000536513.5:c.666_667delinsTG ENSP00000439707.2:p.Leu222=
NM_000350.2:c.4290_4291delinsTG NP_000341.2:p.Leu1430=
NM_000350.3:c.4290_4291delinsTG MANE Select NP_000341.2:p.Leu1430=
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