Canonical Allele Identifier: CA2646649389

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94030674-T-TGGGTTCAAGATGGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030675_94030676insGGTTCAAGATGGCAGG , CM000663.2:g.94030675_94030676insGGTTCAAGATGGCAGG	GRCh38
NC_000001.10:g.94496231_94496232insGGTTCAAGATGGCAGG , CM000663.1:g.94496231_94496232insGGTTCAAGATGGCAGG	GRCh37
NC_000001.9:g.94268819_94268820insGGTTCAAGATGGCAGG	NCBI36
NG_009073.1:g.95475_95476insCTGCCATCTTGAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-149_4254-148insCTGCCATCTTGAACCC MANE Select	ENSP00000359245.3:n.4254-149_4254-148insCTGCCATCTTGAACCC
ENST00000370225.3:c.4254-149_4254-148insCTGCCATCTTGAACCC	ENSP00000359245.3:n.4254-149_4254-148insCTGCCATCTTGAACCC
ENST00000536513.5:c.630-149_630-148insCTGCCATCTTGAACCC	ENSP00000439707.2:n.630-149_630-148insCTGCCATCTTGAACCC
NM_000350.2:c.4254-149_4254-148insCTGCCATCTTGAACCC	NP_000341.2:n.4254-149_4254-148insCTGCCATCTTGAACCC
NM_000350.3:c.4254-149_4254-148insCTGCCATCTTGAACCC MANE Select	NP_000341.2:n.4254-149_4254-148insCTGCCATCTTGAACCC