Canonical Allele Identifier: CA2646651677

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062512-A-AAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062512_94062513insAC , CM000663.2:g.94062512_94062513insAC	GRCh38
NC_000001.10:g.94528068_94528069insAC , CM000663.1:g.94528068_94528069insAC	GRCh37
NC_000001.9:g.94300656_94300657insAC	NCBI36
NG_009073.1:g.63637_63638insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+64_1937+65insGT MANE Select	ENSP00000359245.3:n.1937+64_1937+65insGT
ENST00000649773.1:c.1937+64_1937+65insGT	ENSP00000496882.1:n.1937+64_1937+65insGT
ENST00000370225.3:c.1937+64_1937+65insGT	ENSP00000359245.3:n.1937+64_1937+65insGT
ENST00000536513.5:c.-65+661_-65+662insGT	ENSP00000439707.2:n.-65+661_-65+662insGT
NM_000350.2:c.1937+64_1937+65insGT	NP_000341.2:n.1937+64_1937+65insGT
NM_000350.3:c.1937+64_1937+65insGT MANE Select	NP_000341.2:n.1937+64_1937+65insGT