Canonical Allele Identifier: CA2744617842
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043527_94043528insT , CM000663.2:g.94043527_94043528insT GRCh38
NC_000001.10:g.94509083_94509084insT , CM000663.1:g.94509083_94509084insT GRCh37
NC_000001.9:g.94281671_94281672insT NCBI36
NG_009073.1:g.82622_82623insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-53_3051-52insA MANE Select ENSP00000359245.3:n.3051-53_3051-52insA
ENST00000370225.3:c.3051-53_3051-52insA ENSP00000359245.3:n.3051-53_3051-52insA
ENST00000536513.5:c.-64-3439_-64-3438insA ENSP00000439707.2:n.-64-3439_-64-3438insA
NM_000350.2:c.3051-53_3051-52insA NP_000341.2:n.3051-53_3051-52insA
NM_000350.3:c.3051-53_3051-52insA MANE Select NP_000341.2:n.3051-53_3051-52insA