Canonical Allele Identifier: CA2744615621

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021474_94021475insAGA , CM000663.2:g.94021474_94021475insAGA	GRCh38
NC_000001.10:g.94487030_94487031insAGA , CM000663.1:g.94487030_94487031insAGA	GRCh37
NC_000001.9:g.94259618_94259619insAGA	NCBI36
NG_009073.1:g.104675_104676insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-66_4849-65insTCT MANE Select	ENSP00000359245.3:n.4849-66_4849-65insTCT
ENST00000370225.3:c.4849-66_4849-65insTCT	ENSP00000359245.3:n.4849-66_4849-65insTCT
ENST00000460514.1:n.343-66_343-65insTCT
ENST00000536513.5:c.1225-66_1225-65insTCT	ENSP00000439707.2:n.1225-66_1225-65insTCT
NM_000350.2:c.4849-66_4849-65insTCT	NP_000341.2:n.4849-66_4849-65insTCT
NM_000350.3:c.4849-66_4849-65insTCT MANE Select	NP_000341.2:n.4849-66_4849-65insTCT