Canonical Allele Identifier: CA2744618858
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056841_94056842insA , CM000663.2:g.94056841_94056842insA GRCh38
NC_000001.10:g.94522397_94522398insA , CM000663.1:g.94522397_94522398insA GRCh37
NC_000001.9:g.94294985_94294986insA NCBI36
NG_009073.1:g.69308_69309insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2161-20_2161-19insT MANE Select ENSP00000359245.3:n.2161-20_2161-19insT
ENST00000649773.1:c.2161-1527_2161-1526insT ENSP00000496882.1:n.2161-1527_2161-1526insT
ENST00000370225.3:c.2161-20_2161-19insT ENSP00000359245.3:n.2161-20_2161-19insT
ENST00000536513.5:c.-65+6332_-65+6333insT ENSP00000439707.2:n.-65+6332_-65+6333insT
NM_000350.2:c.2161-20_2161-19insT NP_000341.2:n.2161-20_2161-19insT
NM_000350.3:c.2161-20_2161-19insT MANE Select NP_000341.2:n.2161-20_2161-19insT