Canonical Allele Identifier: CA1181395418

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998139_93998141delinsCCT , CM000663.2:g.93998139_93998141delinsCCT	GRCh38
NC_000001.10:g.94463695_94463697delinsCCT , CM000663.1:g.94463695_94463697delinsCCT	GRCh37
NC_000001.9:g.94236283_94236285delinsCCT	NCBI36
NG_009073.1:g.128009_128011delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-31_6480-29delinsAGG MANE Select	ENSP00000359245.3:n.6480-31_6480-29delinsAGG
ENST00000370225.3:c.6480-31_6480-29delinsAGG	ENSP00000359245.3:n.6480-31_6480-29delinsAGG
ENST00000536513.5:c.2856-31_2856-29delinsAGG	ENSP00000439707.2:n.2856-31_2856-29delinsAGG
NM_000350.2:c.6480-31_6480-29delinsAGG	NP_000341.2:n.6480-31_6480-29delinsAGG
NM_000350.3:c.6480-31_6480-29delinsAGG MANE Select	NP_000341.2:n.6480-31_6480-29delinsAGG