Canonical Allele Identifier: CA2744613807

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998154_93998156del , CM000663.2:g.93998154_93998156del	GRCh38
NC_000001.10:g.94463710_94463712del , CM000663.1:g.94463710_94463712del	GRCh37
NC_000001.9:g.94236298_94236300del	NCBI36
NG_009073.1:g.127994_127996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-46_6480-44del MANE Select	ENSP00000359245.3:n.6480-46_6480-44del
ENST00000370225.3:c.6480-46_6480-44del	ENSP00000359245.3:n.6480-46_6480-44del
ENST00000536513.5:c.2856-46_2856-44del	ENSP00000439707.2:n.2856-46_2856-44del
NM_000350.2:c.6480-46_6480-44del	NP_000341.2:n.6480-46_6480-44del
NM_000350.3:c.6480-46_6480-44del MANE Select	NP_000341.2:n.6480-46_6480-44del