Canonical Allele Identifier: CA1181428133

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060855_94060861delinsCAGATGG , CM000663.2:g.94060855_94060861delinsCAGATGG	GRCh38
NC_000001.10:g.94526411_94526417delinsCAGATGG , CM000663.1:g.94526411_94526417delinsCAGATGG	GRCh37
NC_000001.9:g.94298999_94299005delinsCAGATGG	NCBI36
NG_009073.1:g.65289_65295delinsCCATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-102_1938-96delinsCCATCTG MANE Select	ENSP00000359245.3:n.1938-102_1938-96delinsCCATCTG
ENST00000649773.1:c.1938-102_1938-96delinsCCATCTG	ENSP00000496882.1:n.1938-102_1938-96delinsCCATCTG
ENST00000370225.3:c.1938-102_1938-96delinsCCATCTG	ENSP00000359245.3:n.1938-102_1938-96delinsCCATCTG
ENST00000472033.1:n.58-102_58-96delinsCCATCTG
ENST00000536513.5:c.-65+2313_-65+2319delinsCCATCTG	ENSP00000439707.2:n.-65+2313_-65+2319delinsCCATCTG
NM_000350.2:c.1938-102_1938-96delinsCCATCTG	NP_000341.2:n.1938-102_1938-96delinsCCATCTG
NM_000350.3:c.1938-102_1938-96delinsCCATCTG MANE Select	NP_000341.2:n.1938-102_1938-96delinsCCATCTG