Canonical Allele Identifier: CA740455212
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1282747714
gnomAD v3: 1-94060855-CAGATGG-C
gnomAD v4: 1-94060855-CAGATGG-C
MyVariant Identifiers: chr1:g.94526412_94526417del (hg19) chr1:g.94060856_94060861del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060858_94060863del , CM000663.2:g.94060858_94060863del GRCh38
NC_000001.10:g.94526414_94526419del , CM000663.1:g.94526414_94526419del GRCh37
NC_000001.9:g.94299002_94299007del NCBI36
NG_009073.1:g.65289_65294del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-102_1938-97del MANE Select ENSP00000359245.3:n.1938-102_1938-97del
ENST00000649773.1:c.1938-102_1938-97del ENSP00000496882.1:n.1938-102_1938-97del
ENST00000370225.3:c.1938-102_1938-97del ENSP00000359245.3:n.1938-102_1938-97del
ENST00000472033.1:n.58-102_58-97del
ENST00000536513.5:c.-65+2313_-65+2318del ENSP00000439707.2:n.-65+2313_-65+2318del
NM_000350.2:c.1938-102_1938-97del NP_000341.2:n.1938-102_1938-97del
NM_000350.3:c.1938-102_1938-97del MANE Select NP_000341.2:n.1938-102_1938-97del
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