Canonical Allele Identifier: CA2574438347
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060614_94060615insCC , CM000663.2:g.94060614_94060615insCC GRCh38
NC_000001.10:g.94526170_94526171insCC , CM000663.1:g.94526170_94526171insCC GRCh37
NC_000001.9:g.94298758_94298759insCC NCBI36
NG_009073.1:g.65536_65537insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2083_2084insGG MANE Select ENSP00000359245.3:p.Val695GlyfsTer2
ENST00000649773.1:c.2083_2084insGG ENSP00000496882.1:p.Val695GlyfsTer2
ENST00000370225.3:c.2083_2084insGG ENSP00000359245.3:p.Val695GlyfsTer2
ENST00000472033.1:n.203_204insGG
ENST00000536513.5:c.-65+2560_-65+2561insGG ENSP00000439707.2:n.-65+2560_-65+2561insGG
NM_000350.2:c.2083_2084insGG NP_000341.2:p.Val695GlyfsTer2
NM_000350.3:c.2083_2084insGG MANE Select NP_000341.2:p.Val695GlyfsTer2
Search 100 bp 5'
Search 100 bp 3'