Canonical Allele Identifier: CA1181447759
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111371_94111372delinsTG , CM000663.2:g.94111371_94111372delinsTG GRCh38
NC_000001.10:g.94576927_94576928delinsTG , CM000663.1:g.94576927_94576928delinsTG GRCh37
NC_000001.9:g.94349515_94349516delinsTG NCBI36
NG_009073.1:g.14778_14779delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.302+66_302+67delinsCA MANE Select ENSP00000359245.3:n.302+66_302+67delinsCA
ENST00000649773.1:c.302+66_302+67delinsCA ENSP00000496882.1:n.302+66_302+67delinsCA
ENST00000370225.3:c.302+66_302+67delinsCA ENSP00000359245.3:n.302+66_302+67delinsCA
NM_000350.2:c.302+66_302+67delinsCA NP_000341.2:n.302+66_302+67delinsCA
NM_000350.3:c.302+66_302+67delinsCA MANE Select NP_000341.2:n.302+66_302+67delinsCA
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