Canonical Allele Identifier: CA2646648977

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94041512-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041512_94041513insA , CM000663.2:g.94041512_94041513insA	GRCh38
NC_000001.10:g.94507068_94507069insA , CM000663.1:g.94507068_94507069insA	GRCh37
NC_000001.9:g.94279656_94279657insA	NCBI36
NG_009073.1:g.84637_84638insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-111_3329-110insT MANE Select	ENSP00000359245.3:n.3329-111_3329-110insT
ENST00000370225.3:c.3329-111_3329-110insT	ENSP00000359245.3:n.3329-111_3329-110insT
ENST00000536513.5:c.-64-1424_-64-1423insT	ENSP00000439707.2:n.-64-1424_-64-1423insT
NM_000350.2:c.3329-111_3329-110insT	NP_000341.2:n.3329-111_3329-110insT
NM_000350.3:c.3329-111_3329-110insT MANE Select	NP_000341.2:n.3329-111_3329-110insT