Canonical Allele Identifier: CA2646644826

Gene: ABCA4

Linked Data

• gnomAD v4: 1-93998150-G-GTTTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998150_93998151insTTTTAT , CM000663.2:g.93998150_93998151insTTTTAT	GRCh38
NC_000001.10:g.94463706_94463707insTTTTAT , CM000663.1:g.94463706_94463707insTTTTAT	GRCh37
NC_000001.9:g.94236294_94236295insTTTTAT	NCBI36
NG_009073.1:g.127999_128000insATAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6480-41_6480-40insATAAAA MANE Select	ENSP00000359245.3:n.6480-41_6480-40insATAAAA
ENST00000370225.3:c.6480-41_6480-40insATAAAA	ENSP00000359245.3:n.6480-41_6480-40insATAAAA
ENST00000536513.5:c.2856-41_2856-40insATAAAA	ENSP00000439707.2:n.2856-41_2856-40insATAAAA
NM_000350.2:c.6480-41_6480-40insATAAAA	NP_000341.2:n.6480-41_6480-40insATAAAA
NM_000350.3:c.6480-41_6480-40insATAAAA MANE Select	NP_000341.2:n.6480-41_6480-40insATAAAA