Canonical Allele Identifier: CA2744613829

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998183_93998184insACAG , CM000663.2:g.93998183_93998184insACAG	GRCh38
NC_000001.10:g.94463739_94463740insACAG , CM000663.1:g.94463739_94463740insACAG	GRCh37
NC_000001.9:g.94236327_94236328insACAG	NCBI36
NG_009073.1:g.127966_127967insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-74_6480-73insCTGT MANE Select	ENSP00000359245.3:n.6480-74_6480-73insCTGT
ENST00000370225.3:c.6480-74_6480-73insCTGT	ENSP00000359245.3:n.6480-74_6480-73insCTGT
ENST00000536513.5:c.2856-74_2856-73insCTGT	ENSP00000439707.2:n.2856-74_2856-73insCTGT
NM_000350.2:c.6480-74_6480-73insCTGT	NP_000341.2:n.6480-74_6480-73insCTGT
NM_000350.3:c.6480-74_6480-73insCTGT MANE Select	NP_000341.2:n.6480-74_6480-73insCTGT