Canonical Allele Identifier: CA1181426486
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056688_94056689delinsAC , CM000663.2:g.94056688_94056689delinsAC GRCh38
NC_000001.10:g.94522244_94522245delinsAC , CM000663.1:g.94522244_94522245delinsAC GRCh37
NC_000001.9:g.94294832_94294833delinsAC NCBI36
NG_009073.1:g.69461_69462delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2294_2295delinsGT MANE Select ENSP00000359245.3:p.Ser765=
ENST00000649773.1:c.2161-1374_2161-1373delinsGT ENSP00000496882.1:n.2161-1374_2161-1373delinsGT
ENST00000370225.3:c.2294_2295delinsGT ENSP00000359245.3:p.Ser765=
ENST00000536513.5:c.-65+6485_-65+6486delinsGT ENSP00000439707.2:n.-65+6485_-65+6486delinsGT
NM_000350.2:c.2294_2295delinsGT NP_000341.2:p.Ser765=
NM_000350.3:c.2294_2295delinsGT MANE Select NP_000341.2:p.Ser765=
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