Canonical Allele Identifier: CA1181426412

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056533_94056534delinsCT , CM000663.2:g.94056533_94056534delinsCT	GRCh38
NC_000001.10:g.94522089_94522090delinsCT , CM000663.1:g.94522089_94522090delinsCT	GRCh37
NC_000001.9:g.94294677_94294678delinsCT	NCBI36
NG_009073.1:g.69616_69617delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+67_2382+68delinsAG MANE Select	ENSP00000359245.3:n.2382+67_2382+68delinsAG
ENST00000649773.1:c.2161-1219_2161-1218delinsAG	ENSP00000496882.1:n.2161-1219_2161-1218delinsAG
ENST00000370225.3:c.2382+67_2382+68delinsAG	ENSP00000359245.3:n.2382+67_2382+68delinsAG
ENST00000536513.5:c.-65+6640_-65+6641delinsAG	ENSP00000439707.2:n.-65+6640_-65+6641delinsAG
NM_000350.2:c.2382+67_2382+68delinsAG	NP_000341.2:n.2382+67_2382+68delinsAG
NM_000350.3:c.2382+67_2382+68delinsAG MANE Select	NP_000341.2:n.2382+67_2382+68delinsAG