Canonical Allele Identifier: CA1181408149
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021330_94021334delinsAGGCT , CM000663.2:g.94021330_94021334delinsAGGCT GRCh38
NC_000001.10:g.94486886_94486890delinsAGGCT , CM000663.1:g.94486886_94486890delinsAGGCT GRCh37
NC_000001.9:g.94259474_94259478delinsAGGCT NCBI36
NG_009073.1:g.104816_104820delinsAGCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4924_4928delinsAGCCT MANE Select ENSP00000359245.3:p.Ser1642=
ENST00000370225.3:c.4924_4928delinsAGCCT ENSP00000359245.3:p.Ser1642=
ENST00000460514.1:n.418_422delinsAGCCT
ENST00000470771.1:n.34_38delinsAGCCT
ENST00000536513.5:c.1300_1304delinsAGCCT ENSP00000439707.2:p.Ser434=
NM_000350.2:c.4924_4928delinsAGCCT NP_000341.2:p.Ser1642=
NM_000350.3:c.4924_4928delinsAGCCT MANE Select NP_000341.2:p.Ser1642=
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