Canonical Allele Identifier: CA956810
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs756248158
ExAC: 1:94463376 CCA / C
gnomAD v2: 1-94463376-CCA-C
gnomAD v4: 1-93997820-CCA-C
MyVariant Identifiers: chr1:g.94463377_94463378del (hg19) chr1:g.93997821_93997822del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997821_93997822del , CM000663.2:g.93997821_93997822del GRCh38
NC_000001.10:g.94463377_94463378del , CM000663.1:g.94463377_94463378del GRCh37
NC_000001.9:g.94235965_94235966del NCBI36
NG_009073.1:g.128328_128329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+39_6729+40del MANE Select ENSP00000359245.3:n.6729+39_6729+40del
ENST00000370225.3:c.6729+39_6729+40del ENSP00000359245.3:n.6729+39_6729+40del
ENST00000536513.5:c.3105+39_3105+40del ENSP00000439707.2:n.3105+39_3105+40del
NM_000350.2:c.6729+39_6729+40del NP_000341.2:n.6729+39_6729+40del
NM_000350.3:c.6729+39_6729+40del MANE Select NP_000341.2:n.6729+39_6729+40del
Search 100 bp 5'
Search 100 bp 3'