Canonical Allele Identifier: CA2744619253

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062525_94062526insACAA , CM000663.2:g.94062525_94062526insACAA	GRCh38
NC_000001.10:g.94528081_94528082insACAA , CM000663.1:g.94528081_94528082insACAA	GRCh37
NC_000001.9:g.94300669_94300670insACAA	NCBI36
NG_009073.1:g.63624_63625insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+51_1937+52insTTGT MANE Select	ENSP00000359245.3:n.1937+51_1937+52insTTGT
ENST00000649773.1:c.1937+51_1937+52insTTGT	ENSP00000496882.1:n.1937+51_1937+52insTTGT
ENST00000370225.3:c.1937+51_1937+52insTTGT	ENSP00000359245.3:n.1937+51_1937+52insTTGT
ENST00000536513.5:c.-65+648_-65+649insTTGT	ENSP00000439707.2:n.-65+648_-65+649insTTGT
NM_000350.2:c.1937+51_1937+52insTTGT	NP_000341.2:n.1937+51_1937+52insTTGT
NM_000350.3:c.1937+51_1937+52insTTGT MANE Select	NP_000341.2:n.1937+51_1937+52insTTGT