Canonical Allele Identifier: CA2539918918

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043668_94043669insAAATGATAAAGAATAGTAAAACTA , CM000663.2:g.94043668_94043669insAAATGATAAAGAATAGTAAAACTA	GRCh38
NC_000001.10:g.94509224_94509225insAAATGATAAAGAATAGTAAAACTA , CM000663.1:g.94509224_94509225insAAATGATAAAGAATAGTAAAACTA	GRCh37
NC_000001.9:g.94281812_94281813insAAATGATAAAGAATAGTAAAACTA	NCBI36
NG_009073.1:g.82482_82483insAGTTTTACTATTCTTTATCATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-193_3051-192insAGTTTTACTATTCTTTATCATTTT MANE Select	ENSP00000359245.3:n.3051-193_3051-192insAGTTTTACTATTCTTTATCAT...
ENST00000370225.3:c.3051-193_3051-192insAGTTTTACTATTCTTTATCATTTT	ENSP00000359245.3:n.3051-193_3051-192insAGTTTTACTATTCTTTATCAT...
ENST00000536513.5:c.-64-3579_-64-3578insAGTTTTACTATTCTTTATCATTTT	ENSP00000439707.2:n.-64-3579_-64-3578insAGTTTTACTATTCTTTATCAT...
NM_000350.2:c.3051-193_3051-192insAGTTTTACTATTCTTTATCATTTT	NP_000341.2:n.3051-193_3051-192insAGTTTTACTATTCTTTATCATTTT
NM_000350.3:c.3051-193_3051-192insAGTTTTACTATTCTTTATCATTTT MANE Select	NP_000341.2:n.3051-193_3051-192insAGTTTTACTATTCTTTATCATTTT