Canonical Allele Identifier: CA2744621282

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111716_94111733del , CM000663.2:g.94111716_94111733del	GRCh38
NC_000001.10:g.94577272_94577289del , CM000663.1:g.94577272_94577289del	GRCh37
NC_000001.9:g.94349860_94349877del	NCBI36
NG_009073.1:g.14417_14434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-154_161-137del MANE Select	ENSP00000359245.3:n.161-154_161-137del
ENST00000649773.1:c.161-154_161-137del	ENSP00000496882.1:n.161-154_161-137del
ENST00000370225.3:c.161-154_161-137del	ENSP00000359245.3:n.161-154_161-137del
NM_000350.2:c.161-154_161-137del	NP_000341.2:n.161-154_161-137del
NM_000350.3:c.161-154_161-137del MANE Select	NP_000341.2:n.161-154_161-137del