Canonical Allele Identifier: CA26868647
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs986310430
gnomAD v3: 1-94079247-TCTCA-T
gnomAD v4: 1-94079247-TCTCA-T
MyVariant Identifiers: chr1:g.94544804_94544807del (hg19) chr1:g.94079248_94079251del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079249_94079252del , CM000663.2:g.94079249_94079252del GRCh38
NC_000001.10:g.94544805_94544808del , CM000663.1:g.94544805_94544808del GRCh37
NC_000001.9:g.94317393_94317396del NCBI36
NG_009073.1:g.46899_46902del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1239+71_1239+74del MANE Select ENSP00000359245.3:n.1239+71_1239+74del
ENST00000649773.1:c.1239+71_1239+74del ENSP00000496882.1:n.1239+71_1239+74del
ENST00000370225.3:c.1239+71_1239+74del ENSP00000359245.3:n.1239+71_1239+74del
NM_000350.2:c.1239+71_1239+74del NP_000341.2:n.1239+71_1239+74del
NM_000350.3:c.1239+71_1239+74del MANE Select NP_000341.2:n.1239+71_1239+74del
Search 100 bp 5'
Search 100 bp 3'