Canonical Allele Identifier: CA2646652554

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94079237-G-GGCACATCTCTCTCACACACACACACACACACACACACACTTCTGGGAGGTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94079274_94079275insACTTCTGGGAGGTCCAGCACATCTCTCTCACACACACACACACACACACACAC , CM000663.2:g.94079274_94079275insACTTCTGGGAGGTCCAGCACATCTCTCTCACACACACACACACACACACACAC	GRCh38
NC_000001.10:g.94544830_94544831insACTTCTGGGAGGTCCAGCACATCTCTCTCACACACACACACACACACACACAC , CM000663.1:g.94544830_94544831insACTTCTGGGAGGTCCAGCACATCTCTCTCACACACACACACACACACACACAC	GRCh37
NC_000001.9:g.94317418_94317419insACTTCTGGGAGGTCCAGCACATCTCTCTCACACACACACACACACACACACAC	NCBI36
NG_009073.1:g.46912_46913insTGGACCTCCCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGATGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGATGTGC MANE Select	ENSP00000359245.3:n.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTG...
ENST00000649773.1:c.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGATGTGC	ENSP00000496882.1:n.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTG...
ENST00000370225.3:c.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGATGTGC	ENSP00000359245.3:n.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTG...
NM_000350.2:c.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGATGTGC	NP_000341.2:n.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTGTGTGTG...
NM_000350.3:c.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGATGTGC MANE Select	NP_000341.2:n.1239+84_1239+85insTGGACCTCCCAGAAGTGTGTGTGTGTGTG...