Canonical Allele Identifier: CA2646644787
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997793-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997795del , CM000663.2:g.93997795del GRCh38
NC_000001.10:g.94463351del , CM000663.1:g.94463351del GRCh37
NC_000001.9:g.94235939del NCBI36
NG_009073.1:g.128356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+67del MANE Select ENSP00000359245.3:n.6729+67del
ENST00000370225.3:c.6729+67del ENSP00000359245.3:n.6729+67del
ENST00000536513.5:c.3105+67del ENSP00000439707.2:n.3105+67del
NM_000350.2:c.6729+67del NP_000341.2:n.6729+67del
NM_000350.3:c.6729+67del MANE Select NP_000341.2:n.6729+67del
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