Canonical Allele Identifier: CA2646651707

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94062525-C-CCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062526_94062527insCAAC , CM000663.2:g.94062526_94062527insCAAC	GRCh38
NC_000001.10:g.94528082_94528083insCAAC , CM000663.1:g.94528082_94528083insCAAC	GRCh37
NC_000001.9:g.94300670_94300671insCAAC	NCBI36
NG_009073.1:g.63624_63625insTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937+51_1937+52insTTGG MANE Select	ENSP00000359245.3:n.1937+51_1937+52insTTGG
ENST00000649773.1:c.1937+51_1937+52insTTGG	ENSP00000496882.1:n.1937+51_1937+52insTTGG
ENST00000370225.3:c.1937+51_1937+52insTTGG	ENSP00000359245.3:n.1937+51_1937+52insTTGG
ENST00000536513.5:c.-65+648_-65+649insTTGG	ENSP00000439707.2:n.-65+648_-65+649insTTGG
NM_000350.2:c.1937+51_1937+52insTTGG	NP_000341.2:n.1937+51_1937+52insTTGG
NM_000350.3:c.1937+51_1937+52insTTGG MANE Select	NP_000341.2:n.1937+51_1937+52insTTGG