Canonical Allele Identifier: CA2646653659

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94111647-G-GGTCTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111647_94111648insGTCTTTTTTTTTT , CM000663.2:g.94111647_94111648insGTCTTTTTTTTTT	GRCh38
NC_000001.10:g.94577203_94577204insGTCTTTTTTTTTT , CM000663.1:g.94577203_94577204insGTCTTTTTTTTTT	GRCh37
NC_000001.9:g.94349791_94349792insGTCTTTTTTTTTT	NCBI36
NG_009073.1:g.14502_14503insAAAAAAAAAAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-69_161-68insAAAAAAAAAAGAC MANE Select	ENSP00000359245.3:n.161-69_161-68insAAAAAAAAAAGAC
ENST00000649773.1:c.161-69_161-68insAAAAAAAAAAGAC	ENSP00000496882.1:n.161-69_161-68insAAAAAAAAAAGAC
ENST00000370225.3:c.161-69_161-68insAAAAAAAAAAGAC	ENSP00000359245.3:n.161-69_161-68insAAAAAAAAAAGAC
NM_000350.2:c.161-69_161-68insAAAAAAAAAAGAC	NP_000341.2:n.161-69_161-68insAAAAAAAAAAGAC
NM_000350.3:c.161-69_161-68insAAAAAAAAAAGAC MANE Select	NP_000341.2:n.161-69_161-68insAAAAAAAAAAGAC