Canonical Allele Identifier: CA1181426518
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056780_94056789delinsGGAAGAGGAT , CM000663.2:g.94056780_94056789delinsGGAAGAGGAT GRCh38
NC_000001.10:g.94522336_94522345delinsGGAAGAGGAT , CM000663.1:g.94522336_94522345delinsGGAAGAGGAT GRCh37
NC_000001.9:g.94294924_94294933delinsGGAAGAGGAT NCBI36
NG_009073.1:g.69361_69370delinsATCCTCTTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2194_2203delinsATCCTCTTCC MANE Select ENSP00000359245.3:p.Ile732=
ENST00000649773.1:c.2161-1474_2161-1465delinsATCCTCTTCC ENSP00000496882.1:n.2161-1474_2161-1465delinsATCCTCTTCC
ENST00000370225.3:c.2194_2203delinsATCCTCTTCC ENSP00000359245.3:p.Ile732=
ENST00000536513.5:c.-65+6385_-65+6394delinsATCCTCTTCC ENSP00000439707.2:n.-65+6385_-65+6394delinsATCCTCTTCC
NM_000350.2:c.2194_2203delinsATCCTCTTCC NP_000341.2:p.Ile732=
NM_000350.3:c.2194_2203delinsATCCTCTTCC MANE Select NP_000341.2:p.Ile732=
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