Canonical Allele Identifier: CA2646646020

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94007561-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007562_94007563del , CM000663.2:g.94007562_94007563del	GRCh38
NC_000001.10:g.94473118_94473119del , CM000663.1:g.94473118_94473119del	GRCh37
NC_000001.9:g.94245706_94245707del	NCBI36
NG_009073.1:g.118587_118588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6005+71_6005+72del MANE Select	ENSP00000359245.3:n.6005+71_6005+72del
ENST00000370225.3:c.6005+71_6005+72del	ENSP00000359245.3:n.6005+71_6005+72del
ENST00000465352.1:n.421+71_421+72del
ENST00000484388.1:n.119+71_119+72del
ENST00000536513.5:c.2381+71_2381+72del	ENSP00000439707.2:n.2381+71_2381+72del
NM_000350.2:c.6005+71_6005+72del	NP_000341.2:n.6005+71_6005+72del
NM_000350.3:c.6005+71_6005+72del MANE Select	NP_000341.2:n.6005+71_6005+72del