Canonical Allele Identifier: CA7839976
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs780940495
ExAC: 16:2327833 AGGGGCCCAGGGCCCACCCAGTG / A
gnomAD v2: 16-2327833-AGGGGCCCAGGGCCCACCCAGTG-A
gnomAD v4: 16-2277832-AGGGGCCCAGGGCCCACCCAGTG-A
MyVariant Identifiers: chr16:g.2327834_2327855del (hg19) chr16:g.2277833_2277854del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2277838_2277859del , CM000678.2:g.2277838_2277859del GRCh38
NC_000016.9:g.2327839_2327860del , CM000678.1:g.2327839_2327860del GRCh37
NC_000016.8:g.2267840_2267861del NCBI36
NG_011790.1:g.67893_67914del

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.4909+25_4909+46del MANE Select ENSP00000301732.5:n.4909+25_4909+46del
ENST00000301732.9:c.4909+25_4909+46del ENSP00000301732.5:n.4909+25_4909+46del
ENST00000382381.7:c.4735+25_4735+46del ENSP00000371818.3:n.4735+25_4735+46del
NM_001089.2:c.4909+25_4909+46del NP_001080.2:n.4909+25_4909+46del
NM_001089.3:c.4909+25_4909+46del MANE Select NP_001080.2:n.4909+25_4909+46del
Search 100 bp 5'
Search 100 bp 3'