Canonical Allele Identifier: CA1181428742

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062289_94062294delinsGTCCCC , CM000663.2:g.94062289_94062294delinsGTCCCC	GRCh38
NC_000001.10:g.94527845_94527850delinsGTCCCC , CM000663.1:g.94527845_94527850delinsGTCCCC	GRCh37
NC_000001.9:g.94300433_94300438delinsGTCCCC	NCBI36
NG_009073.1:g.63856_63861delinsGGGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+283_1937+288delinsGGGGAC MANE Select	ENSP00000359245.3:n.1937+283_1937+288delinsGGGGAC
ENST00000649773.1:c.1937+283_1937+288delinsGGGGAC	ENSP00000496882.1:n.1937+283_1937+288delinsGGGGAC
ENST00000370225.3:c.1937+283_1937+288delinsGGGGAC	ENSP00000359245.3:n.1937+283_1937+288delinsGGGGAC
ENST00000536513.5:c.-65+880_-65+885delinsGGGGAC	ENSP00000439707.2:n.-65+880_-65+885delinsGGGGAC
NM_000350.2:c.1937+283_1937+288delinsGGGGAC	NP_000341.2:n.1937+283_1937+288delinsGGGGAC
NM_000350.3:c.1937+283_1937+288delinsGGGGAC MANE Select	NP_000341.2:n.1937+283_1937+288delinsGGGGAC