Canonical Allele Identifier: CA1143538157
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008330_94008333delinsGAGA , CM000663.2:g.94008330_94008333delinsGAGA GRCh38
NC_000001.10:g.94473886_94473889delinsGAGA , CM000663.1:g.94473886_94473889delinsGAGA GRCh37
NC_000001.9:g.94246474_94246477delinsGAGA NCBI36
NG_009073.1:g.117817_117820delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5836-36_5836-33delinsTCTC MANE Select ENSP00000359245.3:n.5836-36_5836-33delinsTCTC
ENST00000370225.3:c.5836-36_5836-33delinsTCTC ENSP00000359245.3:n.5836-36_5836-33delinsTCTC
ENST00000465352.1:n.252-36_252-33delinsTCTC
ENST00000536513.5:c.2212-36_2212-33delinsTCTC ENSP00000439707.2:n.2212-36_2212-33delinsTCTC
NM_000350.2:c.5836-36_5836-33delinsTCTC NP_000341.2:n.5836-36_5836-33delinsTCTC
NM_000350.3:c.5836-36_5836-33delinsTCTC MANE Select NP_000341.2:n.5836-36_5836-33delinsTCTC
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