Canonical Allele Identifier: CA2744617891
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043605_94043606insT , CM000663.2:g.94043605_94043606insT GRCh38
NC_000001.10:g.94509161_94509162insT , CM000663.1:g.94509161_94509162insT GRCh37
NC_000001.9:g.94281749_94281750insT NCBI36
NG_009073.1:g.82544_82545insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-131_3051-130insA MANE Select ENSP00000359245.3:n.3051-131_3051-130insA
ENST00000370225.3:c.3051-131_3051-130insA ENSP00000359245.3:n.3051-131_3051-130insA
ENST00000536513.5:c.-64-3517_-64-3516insA ENSP00000439707.2:n.-64-3517_-64-3516insA
NM_000350.2:c.3051-131_3051-130insA NP_000341.2:n.3051-131_3051-130insA
NM_000350.3:c.3051-131_3051-130insA MANE Select NP_000341.2:n.3051-131_3051-130insA