Canonical Allele Identifier: CA1148293083

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001108_94001113delinsGGGGGG , CM000663.2:g.94001108_94001113delinsGGGGGG	GRCh38
NC_000001.10:g.94466664_94466669delinsGGGGGG , CM000663.1:g.94466664_94466669delinsGGGGGG	GRCh37
NC_000001.9:g.94239252_94239257delinsGGGGGG	NCBI36
NG_009073.1:g.125037_125042delinsCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6283-8_6283-3delinsCCCCCC MANE Select	ENSP00000359245.3:n.6283-8_6283-3delinsCCCCCC
ENST00000370225.3:c.6283-8_6283-3delinsCCCCCC	ENSP00000359245.3:n.6283-8_6283-3delinsCCCCCC
ENST00000536513.5:c.2659-8_2659-3delinsCCCCCC	ENSP00000439707.2:n.2659-8_2659-3delinsCCCCCC
NM_000350.2:c.6283-8_6283-3delinsCCCCCC	NP_000341.2:n.6283-8_6283-3delinsCCCCCC
NM_000350.3:c.6283-8_6283-3delinsCCCCCC MANE Select	NP_000341.2:n.6283-8_6283-3delinsCCCCCC