Canonical Allele Identifier: CA2646653704

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94111719-C-CGGAGCGACGCAGAAGACGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111719_94111720insGGAGCGACGCAGAAGACGGTG , CM000663.2:g.94111719_94111720insGGAGCGACGCAGAAGACGGTG	GRCh38
NC_000001.10:g.94577275_94577276insGGAGCGACGCAGAAGACGGTG , CM000663.1:g.94577275_94577276insGGAGCGACGCAGAAGACGGTG	GRCh37
NC_000001.9:g.94349863_94349864insGGAGCGACGCAGAAGACGGTG	NCBI36
NG_009073.1:g.14430_14431insCACCGTCTTCTGCGTCGCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-141_161-140insCACCGTCTTCTGCGTCGCTCC MANE Select	ENSP00000359245.3:n.161-141_161-140insCACCGTCTTCTGCGTCGCTCC
ENST00000649773.1:c.161-141_161-140insCACCGTCTTCTGCGTCGCTCC	ENSP00000496882.1:n.161-141_161-140insCACCGTCTTCTGCGTCGCTCC
ENST00000370225.3:c.161-141_161-140insCACCGTCTTCTGCGTCGCTCC	ENSP00000359245.3:n.161-141_161-140insCACCGTCTTCTGCGTCGCTCC
NM_000350.2:c.161-141_161-140insCACCGTCTTCTGCGTCGCTCC	NP_000341.2:n.161-141_161-140insCACCGTCTTCTGCGTCGCTCC
NM_000350.3:c.161-141_161-140insCACCGTCTTCTGCGTCGCTCC MANE Select	NP_000341.2:n.161-141_161-140insCACCGTCTTCTGCGTCGCTCC