Canonical Allele Identifier: CA1181397736
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1048141
ClinVar RCV Id: RCV001352983
dbSNP Id: rs1659159979
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001057_94001065delinsGCC , CM000663.2:g.94001057_94001065delinsGCC GRCh38
NC_000001.10:g.94466613_94466621delinsGCC , CM000663.1:g.94466613_94466621delinsGCC GRCh37
NC_000001.9:g.94239201_94239209delinsGCC NCBI36
NG_009073.1:g.125085_125093delinsGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6323_6331delinsGGC MANE Select ENSP00000359245.3:p.Met2108_Asn2111delinsArgHis
ENST00000370225.3:c.6323_6331delinsGGC ENSP00000359245.3:p.Met2108_Asn2111delinsArgHis
ENST00000536513.5:c.2699_2707delinsGGC ENSP00000439707.2:p.Met900_Asn903delinsArgHis
NM_000350.2:c.6323_6331delinsGGC NP_000341.2:p.Met2108_Asn2111delinsArgHis
NM_000350.3:c.6323_6331delinsGGC MANE Select NP_000341.2:p.Met2108_Asn2111delinsArgHis
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