Canonical Allele Identifier: CA2744621216
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111665_94111666insACA , CM000663.2:g.94111665_94111666insACA GRCh38
NC_000001.10:g.94577221_94577222insACA , CM000663.1:g.94577221_94577222insACA GRCh37
NC_000001.9:g.94349809_94349810insACA NCBI36
NG_009073.1:g.14484_14485insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-87_161-86insTGT MANE Select ENSP00000359245.3:n.161-87_161-86insTGT
ENST00000649773.1:c.161-87_161-86insTGT ENSP00000496882.1:n.161-87_161-86insTGT
ENST00000370225.3:c.161-87_161-86insTGT ENSP00000359245.3:n.161-87_161-86insTGT
NM_000350.2:c.161-87_161-86insTGT NP_000341.2:n.161-87_161-86insTGT
NM_000350.3:c.161-87_161-86insTGT MANE Select NP_000341.2:n.161-87_161-86insTGT