Canonical Allele Identifier: CA2744613819

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998167_93998168insACG , CM000663.2:g.93998167_93998168insACG	GRCh38
NC_000001.10:g.94463723_94463724insACG , CM000663.1:g.94463723_94463724insACG	GRCh37
NC_000001.9:g.94236311_94236312insACG	NCBI36
NG_009073.1:g.127982_127983insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-58_6480-57insCGT MANE Select	ENSP00000359245.3:n.6480-58_6480-57insCGT
ENST00000370225.3:c.6480-58_6480-57insCGT	ENSP00000359245.3:n.6480-58_6480-57insCGT
ENST00000536513.5:c.2856-58_2856-57insCGT	ENSP00000439707.2:n.2856-58_2856-57insCGT
NM_000350.2:c.6480-58_6480-57insCGT	NP_000341.2:n.6480-58_6480-57insCGT
NM_000350.3:c.6480-58_6480-57insCGT MANE Select	NP_000341.2:n.6480-58_6480-57insCGT