Canonical Allele Identifier: CA2744617710
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042986_94042987insA , CM000663.2:g.94042986_94042987insA GRCh38
NC_000001.10:g.94508542_94508543insA , CM000663.1:g.94508542_94508543insA GRCh37
NC_000001.9:g.94281130_94281131insA NCBI36
NG_009073.1:g.83163_83164insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3191-89_3191-88insT MANE Select ENSP00000359245.3:n.3191-89_3191-88insT
ENST00000370225.3:c.3191-89_3191-88insT ENSP00000359245.3:n.3191-89_3191-88insT
ENST00000536513.5:c.-64-2898_-64-2897insT ENSP00000439707.2:n.-64-2898_-64-2897insT
NM_000350.2:c.3191-89_3191-88insT NP_000341.2:n.3191-89_3191-88insT
NM_000350.3:c.3191-89_3191-88insT MANE Select NP_000341.2:n.3191-89_3191-88insT