Canonical Allele Identifier: CA1146879657

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062343_94062365delinsGCTACAACATCAACTCTTTTCCC , CM000663.2:g.94062343_94062365delinsGCTACAACATCAACTCTTTTCCC	GRCh38
NC_000001.10:g.94527899_94527921delinsGCTACAACATCAACTCTTTTCCC , CM000663.1:g.94527899_94527921delinsGCTACAACATCAACTCTTTTCCC	GRCh37
NC_000001.9:g.94300487_94300509delinsGCTACAACATCAACTCTTTTCCC	NCBI36
NG_009073.1:g.63785_63807delinsGGGAAAAGAGTTGATGTTGTAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+212_1937+234delinsGGGAAAAGAGTTGATGTTGTAGC MANE Select	ENSP00000359245.3:n.1937+212_1937+234delinsGGGAAAAGAGTTGATGTT...
ENST00000649773.1:c.1937+212_1937+234delinsGGGAAAAGAGTTGATGTTGTAGC	ENSP00000496882.1:n.1937+212_1937+234delinsGGGAAAAGAGTTGATGTT...
ENST00000370225.3:c.1937+212_1937+234delinsGGGAAAAGAGTTGATGTTGTAGC	ENSP00000359245.3:n.1937+212_1937+234delinsGGGAAAAGAGTTGATGTT...
ENST00000536513.5:c.-65+809_-65+831delinsGGGAAAAGAGTTGATGTTGTAGC	ENSP00000439707.2:n.-65+809_-65+831delinsGGGAAAAGAGTTGATGTTGT...
NM_000350.2:c.1937+212_1937+234delinsGGGAAAAGAGTTGATGTTGTAGC	NP_000341.2:n.1937+212_1937+234delinsGGGAAAAGAGTTGATGTTGTAGC
NM_000350.3:c.1937+212_1937+234delinsGGGAAAAGAGTTGATGTTGTAGC MANE Select	NP_000341.2:n.1937+212_1937+234delinsGGGAAAAGAGTTGATGTTGTAGC