Canonical Allele Identifier: CA2646644827

Gene: ABCA4

Linked Data

• gnomAD v4: 1-93998151-G-GTTATTATATTTTACCGCAATAAAAAATGTGATTACATT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998153_93998154insATTATATTTTACCGCAATAAAAAATGTGATTACATTTT , CM000663.2:g.93998153_93998154insATTATATTTTACCGCAATAAAAAATGTGATTACATTTT	GRCh38
NC_000001.10:g.94463709_94463710insATTATATTTTACCGCAATAAAAAATGTGATTACATTTT , CM000663.1:g.94463709_94463710insATTATATTTTACCGCAATAAAAAATGTGATTACATTTT	GRCh37
NC_000001.9:g.94236297_94236298insATTATATTTTACCGCAATAAAAAATGTGATTACATTTT	NCBI36
NG_009073.1:g.127998_127999insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA MANE Select	ENSP00000359245.3:n.6480-42_6480-41insAATGTAATCACATTTTTTATTGC...
ENST00000370225.3:c.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA	ENSP00000359245.3:n.6480-42_6480-41insAATGTAATCACATTTTTTATTGC...
ENST00000536513.5:c.2856-42_2856-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA	ENSP00000439707.2:n.2856-42_2856-41insAATGTAATCACATTTTTTATTGC...
NM_000350.2:c.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA	NP_000341.2:n.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAA...
NM_000350.3:c.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAAATATAATAA MANE Select	NP_000341.2:n.6480-42_6480-41insAATGTAATCACATTTTTTATTGCGGTAAA...