Canonical Allele Identifier: CA2744616573
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030636_94030637insA , CM000663.2:g.94030636_94030637insA GRCh38
NC_000001.10:g.94496192_94496193insA , CM000663.1:g.94496192_94496193insA GRCh37
NC_000001.9:g.94268780_94268781insA NCBI36
NG_009073.1:g.95513_95514insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-111_4254-110insT MANE Select ENSP00000359245.3:n.4254-111_4254-110insT
ENST00000370225.3:c.4254-111_4254-110insT ENSP00000359245.3:n.4254-111_4254-110insT
ENST00000536513.5:c.630-111_630-110insT ENSP00000439707.2:n.630-111_630-110insT
NM_000350.2:c.4254-111_4254-110insT NP_000341.2:n.4254-111_4254-110insT
NM_000350.3:c.4254-111_4254-110insT MANE Select NP_000341.2:n.4254-111_4254-110insT