Canonical Allele Identifier: CA1181408336
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021421_94021422delinsAG , CM000663.2:g.94021421_94021422delinsAG GRCh38
NC_000001.10:g.94486977_94486978delinsAG , CM000663.1:g.94486977_94486978delinsAG GRCh37
NC_000001.9:g.94259565_94259566delinsAG NCBI36
NG_009073.1:g.104728_104729delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-13_4849-12delinsCT MANE Select ENSP00000359245.3:n.4849-13_4849-12delinsCT
ENST00000370225.3:c.4849-13_4849-12delinsCT ENSP00000359245.3:n.4849-13_4849-12delinsCT
ENST00000460514.1:n.343-13_343-12delinsCT
ENST00000536513.5:c.1225-13_1225-12delinsCT ENSP00000439707.2:n.1225-13_1225-12delinsCT
NM_000350.2:c.4849-13_4849-12delinsCT NP_000341.2:n.4849-13_4849-12delinsCT
NM_000350.3:c.4849-13_4849-12delinsCT MANE Select NP_000341.2:n.4849-13_4849-12delinsCT