Canonical Allele Identifier: CA2744621209
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111660_94111661insA , CM000663.2:g.94111660_94111661insA GRCh38
NC_000001.10:g.94577216_94577217insA , CM000663.1:g.94577216_94577217insA GRCh37
NC_000001.9:g.94349804_94349805insA NCBI36
NG_009073.1:g.14489_14490insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-82_161-81insT MANE Select ENSP00000359245.3:n.161-82_161-81insT
ENST00000649773.1:c.161-82_161-81insT ENSP00000496882.1:n.161-82_161-81insT
ENST00000370225.3:c.161-82_161-81insT ENSP00000359245.3:n.161-82_161-81insT
NM_000350.2:c.161-82_161-81insT NP_000341.2:n.161-82_161-81insT
NM_000350.3:c.161-82_161-81insT MANE Select NP_000341.2:n.161-82_161-81insT