Canonical Allele Identifier: CA1181428864

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062548_94062551delinsTGGA , CM000663.2:g.94062548_94062551delinsTGGA	GRCh38
NC_000001.10:g.94528104_94528107delinsTGGA , CM000663.1:g.94528104_94528107delinsTGGA	GRCh37
NC_000001.9:g.94300692_94300695delinsTGGA	NCBI36
NG_009073.1:g.63599_63602delinsTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+26_1937+29delinsTCCA MANE Select	ENSP00000359245.3:n.1937+26_1937+29delinsTCCA
ENST00000649773.1:c.1937+26_1937+29delinsTCCA	ENSP00000496882.1:n.1937+26_1937+29delinsTCCA
ENST00000370225.3:c.1937+26_1937+29delinsTCCA	ENSP00000359245.3:n.1937+26_1937+29delinsTCCA
ENST00000536513.5:c.-65+623_-65+626delinsTCCA	ENSP00000439707.2:n.-65+623_-65+626delinsTCCA
NM_000350.2:c.1937+26_1937+29delinsTCCA	NP_000341.2:n.1937+26_1937+29delinsTCCA
NM_000350.3:c.1937+26_1937+29delinsTCCA MANE Select	NP_000341.2:n.1937+26_1937+29delinsTCCA