Canonical Allele Identifier: CA1181447865

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111662_94111702delinsAAGGGGCCCGGGCCCCTCTGATGTCCTCCTTCATTCTCAGC , CM000663.2:g.94111662_94111702delinsAAGGGGCCCGGGCCCCTCTGATGTCCTCCTTCATTCTCAGC	GRCh38
NC_000001.10:g.94577218_94577258delinsAAGGGGCCCGGGCCCCTCTGATGTCCTCCTTCATTCTCAGC , CM000663.1:g.94577218_94577258delinsAAGGGGCCCGGGCCCCTCTGATGTCCTCCTTCATTCTCAGC	GRCh37
NC_000001.9:g.94349806_94349846delinsAAGGGGCCCGGGCCCCTCTGATGTCCTCCTTCATTCTCAGC	NCBI36
NG_009073.1:g.14448_14488delinsGCTGAGAATGAAGGAGGACATCAGAGGGGCCCGGGCCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-123_161-83delinsGCTGAGAATGAAGGAGGACATCAGAGGGGCCCGGGCCCCTT MANE Select	ENSP00000359245.3:n.161-123_161-83delinsGCTGAGAATGAAGGAGGACAT...
ENST00000649773.1:c.161-123_161-83delinsGCTGAGAATGAAGGAGGACATCAGAGGGGCCCGGGCCCCTT	ENSP00000496882.1:n.161-123_161-83delinsGCTGAGAATGAAGGAGGACAT...
ENST00000370225.3:c.161-123_161-83delinsGCTGAGAATGAAGGAGGACATCAGAGGGGCCCGGGCCCCTT	ENSP00000359245.3:n.161-123_161-83delinsGCTGAGAATGAAGGAGGACAT...
NM_000350.2:c.161-123_161-83delinsGCTGAGAATGAAGGAGGACATCAGAGGGGCCCGGGCCCCTT	NP_000341.2:n.161-123_161-83delinsGCTGAGAATGAAGGAGGACATCAGAGG...
NM_000350.3:c.161-123_161-83delinsGCTGAGAATGAAGGAGGACATCAGAGGGGCCCGGGCCCCTT MANE Select	NP_000341.2:n.161-123_161-83delinsGCTGAGAATGAAGGAGGACATCAGAGG...