Canonical Allele Identifier: CA1181426419

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056537_94056547delinsAGGACTGCTAC , CM000663.2:g.94056537_94056547delinsAGGACTGCTAC	GRCh38
NC_000001.10:g.94522093_94522103delinsAGGACTGCTAC , CM000663.1:g.94522093_94522103delinsAGGACTGCTAC	GRCh37
NC_000001.9:g.94294681_94294691delinsAGGACTGCTAC	NCBI36
NG_009073.1:g.69603_69613delinsGTAGCAGTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+54_2382+64delinsGTAGCAGTCCT MANE Select	ENSP00000359245.3:n.2382+54_2382+64delinsGTAGCAGTCCT
ENST00000649773.1:c.2161-1232_2161-1222delinsGTAGCAGTCCT	ENSP00000496882.1:n.2161-1232_2161-1222delinsGTAGCAGTCCT
ENST00000370225.3:c.2382+54_2382+64delinsGTAGCAGTCCT	ENSP00000359245.3:n.2382+54_2382+64delinsGTAGCAGTCCT
ENST00000536513.5:c.-65+6627_-65+6637delinsGTAGCAGTCCT	ENSP00000439707.2:n.-65+6627_-65+6637delinsGTAGCAGTCCT
NM_000350.2:c.2382+54_2382+64delinsGTAGCAGTCCT	NP_000341.2:n.2382+54_2382+64delinsGTAGCAGTCCT
NM_000350.3:c.2382+54_2382+64delinsGTAGCAGTCCT MANE Select	NP_000341.2:n.2382+54_2382+64delinsGTAGCAGTCCT