Canonical Allele Identifier: CA719171958
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1194412608
gnomAD v3: 16-2315456-CTA-C
gnomAD v4: 16-2315456-CTA-C
MyVariant Identifiers: chr16:g.2365458_2365459del (hg19) chr16:g.2315457_2315458del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2315459_2315460del , CM000678.2:g.2315459_2315460del GRCh38
NC_000016.9:g.2365460_2365461del , CM000678.1:g.2365460_2365461del GRCh37
NC_000016.8:g.2305461_2305462del NCBI36
NG_011790.1:g.30289_30290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.1111+1825_1111+1826del MANE Select ENSP00000301732.5:n.1111+1825_1111+1826del
ENST00000301732.9:c.1111+1825_1111+1826del ENSP00000301732.5:n.1111+1825_1111+1826del
ENST00000382381.7:c.1111+1825_1111+1826del ENSP00000371818.3:n.1111+1825_1111+1826del
ENST00000563623.5:n.1674+1825_1674+1826del
NM_001089.2:c.1111+1825_1111+1826del NP_001080.2:n.1111+1825_1111+1826del
NM_001089.3:c.1111+1825_1111+1826del MANE Select NP_001080.2:n.1111+1825_1111+1826del
Search 100 bp 5'
Search 100 bp 3'