Canonical Allele Identifier: CA1181426394

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056478_94056479delinsAC , CM000663.2:g.94056478_94056479delinsAC	GRCh38
NC_000001.10:g.94522034_94522035delinsAC , CM000663.1:g.94522034_94522035delinsAC	GRCh37
NC_000001.9:g.94294622_94294623delinsAC	NCBI36
NG_009073.1:g.69671_69672delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+122_2382+123delinsGT MANE Select	ENSP00000359245.3:n.2382+122_2382+123delinsGT
ENST00000649773.1:c.2161-1164_2161-1163delinsGT	ENSP00000496882.1:n.2161-1164_2161-1163delinsGT
ENST00000370225.3:c.2382+122_2382+123delinsGT	ENSP00000359245.3:n.2382+122_2382+123delinsGT
ENST00000536513.5:c.-65+6695_-65+6696delinsGT	ENSP00000439707.2:n.-65+6695_-65+6696delinsGT
NM_000350.2:c.2382+122_2382+123delinsGT	NP_000341.2:n.2382+122_2382+123delinsGT
NM_000350.3:c.2382+122_2382+123delinsGT MANE Select	NP_000341.2:n.2382+122_2382+123delinsGT