Canonical Allele Identifier: CA524697312
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1425217062
gnomAD v2: 1-94463476-A-AGAGGAGGAGCTGGAAGATCCTCGCCAGGGAG
gnomAD v4: 1-93997920-A-AGAGGAGGAGCTGGAAGATCCTCGCCAGGGAG
MyVariant Identifiers: chr1:g.94463476_94463477insGAGGAGGAGCTGGAAGATCCTCGCCAGGGAG (hg19) chr1:g.93997920_93997921insGAGGAGGAGCTGGAAGATCCTCGCCAGGGAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997930_93997960dup , CM000663.2:g.93997930_93997960dup GRCh38
NC_000001.10:g.94463486_94463516dup , CM000663.1:g.94463486_94463516dup GRCh37
NC_000001.9:g.94236074_94236104dup NCBI36
NG_009073.1:g.128199_128229dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6639_6669dup MANE Select ENSP00000359245.3:p.Ser2224LeufsTer37
ENST00000370225.3:c.6639_6669dup ENSP00000359245.3:p.Ser2224LeufsTer37
ENST00000536513.5:c.3015_3045dup ENSP00000439707.2:p.Ser1016LeufsTer37
NM_000350.2:c.6639_6669dup NP_000341.2:p.Ser2224LeufsTer37
NM_000350.3:c.6639_6669dup MANE Select NP_000341.2:p.Ser2224LeufsTer37
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