Canonical Allele Identifier: CA2646647607
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021095-T-TAG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021095_94021096insAG , CM000663.2:g.94021095_94021096insAG GRCh38
NC_000001.10:g.94486651_94486652insAG , CM000663.1:g.94486651_94486652insAG GRCh37
NC_000001.9:g.94259239_94259240insAG NCBI36
NG_009073.1:g.105054_105055insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+144_5018+145insCT MANE Select ENSP00000359245.3:n.5018+144_5018+145insCT
ENST00000370225.3:c.5018+144_5018+145insCT ENSP00000359245.3:n.5018+144_5018+145insCT
ENST00000460514.1:n.512+144_512+145insCT
ENST00000470771.1:n.128+144_128+145insCT
ENST00000536513.5:c.1394+144_1394+145insCT ENSP00000439707.2:n.1394+144_1394+145insCT
NM_000350.2:c.5018+144_5018+145insCT NP_000341.2:n.5018+144_5018+145insCT
NM_000350.3:c.5018+144_5018+145insCT MANE Select NP_000341.2:n.5018+144_5018+145insCT
Search 100 bp 5'
Search 100 bp 3'