Canonical Allele Identifier: CA1181415186
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031109_94031110delinsCG , CM000663.2:g.94031109_94031110delinsCG GRCh38
NC_000001.10:g.94496665_94496666delinsCG , CM000663.1:g.94496665_94496666delinsCG GRCh37
NC_000001.9:g.94269253_94269254delinsCG NCBI36
NG_009073.1:g.95040_95041delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4139_4140delinsCG MANE Select ENSP00000359245.3:p.Pro1380=
ENST00000370225.3:c.4139_4140delinsCG ENSP00000359245.3:p.Pro1380=
ENST00000536513.5:c.515_516delinsCG ENSP00000439707.2:p.Pro172=
NM_000350.2:c.4139_4140delinsCG NP_000341.2:p.Pro1380=
NM_000350.3:c.4139_4140delinsCG MANE Select NP_000341.2:p.Pro1380=