Canonical Allele Identifier: CA2744617553

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041564_94041565insA , CM000663.2:g.94041564_94041565insA	GRCh38
NC_000001.10:g.94507120_94507121insA , CM000663.1:g.94507120_94507121insA	GRCh37
NC_000001.9:g.94279708_94279709insA	NCBI36
NG_009073.1:g.84585_84586insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-163_3329-162insT MANE Select	ENSP00000359245.3:n.3329-163_3329-162insT
ENST00000370225.3:c.3329-163_3329-162insT	ENSP00000359245.3:n.3329-163_3329-162insT
ENST00000536513.5:c.-64-1476_-64-1475insT	ENSP00000439707.2:n.-64-1476_-64-1475insT
NM_000350.2:c.3329-163_3329-162insT	NP_000341.2:n.3329-163_3329-162insT
NM_000350.3:c.3329-163_3329-162insT MANE Select	NP_000341.2:n.3329-163_3329-162insT