Canonical Allele Identifier: CA524387137
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1291062187
gnomAD v2: 1-94532907-TCAGTGGCATTGCTGACTG-T
gnomAD v3: 1-94067351-TCAGTGGCATTGCTGACTG-T
gnomAD v4: 1-94067351-TCAGTGGCATTGCTGACTG-T
MyVariant Identifiers: chr1:g.94532908_94532925del (hg19) chr1:g.94067352_94067369del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067353_94067370del , CM000663.2:g.94067353_94067370del GRCh38
NC_000001.10:g.94532909_94532926del , CM000663.1:g.94532909_94532926del GRCh37
NC_000001.9:g.94305497_94305514del NCBI36
NG_009073.1:g.58781_58798del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1555-4052_1555-4035del MANE Select ENSP00000359245.3:n.1555-4052_1555-4035del
ENST00000649773.1:c.1555-4052_1555-4035del ENSP00000496882.1:n.1555-4052_1555-4035del
ENST00000370225.3:c.1555-4052_1555-4035del ENSP00000359245.3:n.1555-4052_1555-4035del
NM_000350.2:c.1555-4052_1555-4035del NP_000341.2:n.1555-4052_1555-4035del
NM_000350.3:c.1555-4052_1555-4035del MANE Select NP_000341.2:n.1555-4052_1555-4035del
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