Canonical Allele Identifier: CA227091
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99206
ClinVar RCV Id: RCV000085557
dbSNP Id: rs61750063
MyVariant Identifiers: chr1:g.94508439_94508440dupTT (hg19) chr1:g.94508438_94508439insTT (hg19) chr1:g.94042883_94042884dupTT (hg38) chr1:g.94042882_94042883insTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042884_94042885dup , CM000663.2:g.94042884_94042885dup GRCh38
NC_000001.10:g.94508440_94508441dup , CM000663.1:g.94508440_94508441dup GRCh37
NC_000001.9:g.94281028_94281029dup NCBI36
NG_009073.1:g.83266_83267dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3205_3206dup MANE Select ENSP00000359245.3:p.Leu1070SerfsTer15
ENST00000370225.3:c.3205_3206dup ENSP00000359245.3:p.Leu1070SerfsTer15
ENST00000536513.5:c.-64-2795_-64-2794dup ENSP00000439707.2:n.-64-2795_-64-2794dup
NM_000350.2:c.3205_3206dup NP_000341.2:p.Leu1070SerfsTer15
NM_000350.3:c.3205_3206dup MANE Select NP_000341.2:p.Leu1070SerfsTer15
Search 100 bp 5'
Search 100 bp 3'