Canonical Allele Identifier: CA2744621235

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111675_94111676insAGA , CM000663.2:g.94111675_94111676insAGA	GRCh38
NC_000001.10:g.94577231_94577232insAGA , CM000663.1:g.94577231_94577232insAGA	GRCh37
NC_000001.9:g.94349819_94349820insAGA	NCBI36
NG_009073.1:g.14474_14475insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-97_161-96insTCT MANE Select	ENSP00000359245.3:n.161-97_161-96insTCT
ENST00000649773.1:c.161-97_161-96insTCT	ENSP00000496882.1:n.161-97_161-96insTCT
ENST00000370225.3:c.161-97_161-96insTCT	ENSP00000359245.3:n.161-97_161-96insTCT
NM_000350.2:c.161-97_161-96insTCT	NP_000341.2:n.161-97_161-96insTCT
NM_000350.3:c.161-97_161-96insTCT MANE Select	NP_000341.2:n.161-97_161-96insTCT