Canonical Allele Identifier: CA1181407218
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010647_94010648delinsCT , CM000663.2:g.94010647_94010648delinsCT GRCh38
NC_000001.10:g.94476203_94476204delinsCT , CM000663.1:g.94476203_94476204delinsCT GRCh37
NC_000001.9:g.94248791_94248792delinsCT NCBI36
NG_009073.1:g.115502_115503delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5714+152_5714+153delinsAG MANE Select ENSP00000359245.3:n.5714+152_5714+153delinsAG
ENST00000370225.3:c.5714+152_5714+153delinsAG ENSP00000359245.3:n.5714+152_5714+153delinsAG
ENST00000465352.1:n.130+152_130+153delinsAG
ENST00000536513.5:c.2090+152_2090+153delinsAG ENSP00000439707.2:n.2090+152_2090+153delinsAG
NM_000350.2:c.5714+152_5714+153delinsAG NP_000341.2:n.5714+152_5714+153delinsAG
NM_000350.3:c.5714+152_5714+153delinsAG MANE Select NP_000341.2:n.5714+152_5714+153delinsAG
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