Canonical Allele Identifier: CA2646653658

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94111645-G-GGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111645_94111646insGGA , CM000663.2:g.94111645_94111646insGGA	GRCh38
NC_000001.10:g.94577201_94577202insGGA , CM000663.1:g.94577201_94577202insGGA	GRCh37
NC_000001.9:g.94349789_94349790insGGA	NCBI36
NG_009073.1:g.14504_14505insTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-67_161-66insTCC MANE Select	ENSP00000359245.3:n.161-67_161-66insTCC
ENST00000649773.1:c.161-67_161-66insTCC	ENSP00000496882.1:n.161-67_161-66insTCC
ENST00000370225.3:c.161-67_161-66insTCC	ENSP00000359245.3:n.161-67_161-66insTCC
NM_000350.2:c.161-67_161-66insTCC	NP_000341.2:n.161-67_161-66insTCC
NM_000350.3:c.161-67_161-66insTCC MANE Select	NP_000341.2:n.161-67_161-66insTCC