Canonical Allele Identifier: CA2646651069
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94056800-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056802_94056803del , CM000663.2:g.94056802_94056803del GRCh38
NC_000001.10:g.94522358_94522359del , CM000663.1:g.94522358_94522359del GRCh37
NC_000001.9:g.94294946_94294947del NCBI36
NG_009073.1:g.69348_69349del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2181_2182del MANE Select ENSP00000359245.3:p.Tyr727Ter
ENST00000649773.1:c.2161-1487_2161-1486del ENSP00000496882.1:n.2161-1487_2161-1486de...
ENST00000370225.3:c.2181_2182del ENSP00000359245.3:p.Tyr727Ter
ENST00000536513.5:c.-65+6372_-65+6373del ENSP00000439707.2:n.-65+6372_-65+6373del
NM_000350.2:c.2181_2182del NP_000341.2:p.Tyr727Ter
NM_000350.3:c.2181_2182del MANE Select NP_000341.2:p.Tyr727Ter
Search 100 bp 5'
Search 100 bp 3'