Canonical Allele Identifier: CA1181414599
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029587_94029601delinsACAGAAGGAGTCTTC , CM000663.2:g.94029587_94029601delinsACAGAAGGAGTCTTC GRCh38
NC_000001.10:g.94495143_94495157delinsACAGAAGGAGTCTTC , CM000663.1:g.94495143_94495157delinsACAGAAGGAGTCTTC GRCh37
NC_000001.9:g.94267731_94267745delinsACAGAAGGAGTCTTC NCBI36
NG_009073.1:g.96549_96563delinsGAAGACTCCTTCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4383_4397delinsGAAGACTCCTTCTGT MANE Select ENSP00000359245.3:p.Trp1461=
ENST00000370225.3:c.4383_4397delinsGAAGACTCCTTCTGT ENSP00000359245.3:p.Trp1461=
ENST00000536513.5:c.759_773delinsGAAGACTCCTTCTGT ENSP00000439707.2:p.Trp253=
NM_000350.2:c.4383_4397delinsGAAGACTCCTTCTGT NP_000341.2:p.Trp1461=
NM_000350.3:c.4383_4397delinsGAAGACTCCTTCTGT MANE Select NP_000341.2:p.Trp1461=