Canonical Allele Identifier: CA2744619165

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060862_94060863insCAC , CM000663.2:g.94060862_94060863insCAC	GRCh38
NC_000001.10:g.94526418_94526419insCAC , CM000663.1:g.94526418_94526419insCAC	GRCh37
NC_000001.9:g.94299006_94299007insCAC	NCBI36
NG_009073.1:g.65287_65288insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-104_1938-103insGTG MANE Select	ENSP00000359245.3:n.1938-104_1938-103insGTG
ENST00000649773.1:c.1938-104_1938-103insGTG	ENSP00000496882.1:n.1938-104_1938-103insGTG
ENST00000370225.3:c.1938-104_1938-103insGTG	ENSP00000359245.3:n.1938-104_1938-103insGTG
ENST00000472033.1:n.58-104_58-103insGTG
ENST00000536513.5:c.-65+2311_-65+2312insGTG	ENSP00000439707.2:n.-65+2311_-65+2312insGTG
NM_000350.2:c.1938-104_1938-103insGTG	NP_000341.2:n.1938-104_1938-103insGTG
NM_000350.3:c.1938-104_1938-103insGTG MANE Select	NP_000341.2:n.1938-104_1938-103insGTG