Canonical Allele Identifier: CA4573854
Gene: ASB10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2884295
ClinVar RCV Id: RCV003724326
dbSNP Id: rs754054996
ExAC: 7:150883492 GC / G
gnomAD v2: 7-150883492-GC-G
gnomAD v3: 7-151186405-GC-G
gnomAD v4: 7-151186405-GC-G
MyVariant Identifiers: chr7:g.150883493del (hg19) chr7:g.151186406del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151186410del , CM000669.2:g.151186410del GRCh38
NC_000007.13:g.150883497del , CM000669.1:g.150883497del GRCh37
NC_000007.12:g.150514430del NCBI36
NG_017016.1:g.6427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000420175.3:c.570del MANE Select ENSP00000391137.2:p.Pro191LeufsTer?
ENST00000275838.5:c.570del ENSP00000275838.1:p.Pro191LeufsTer?
ENST00000377867.7:c.525del ENSP00000367098.3:p.Pro176LeufsTer?
ENST00000420175.2:c.570del ENSP00000391137.2:p.Pro191LeufsTer?
NM_001142459.1:c.570del NP_001135931.2:p.Pro191LeufsTer?
NM_001142460.1:c.570del NP_001135932.2:p.Pro191LeufsTer?
NM_080871.3:c.525del NP_543147.2:p.Pro176LeufsTer?
XM_005249949.3:c.705del XP_005250006.1:p.Pro236LeufsTer?
NM_001142459.2:c.570del MANE Select NP_001135931.2:p.Pro191LeufsTer?
NM_080871.4:c.525del NP_543147.2:p.Pro176LeufsTer?
Search 100 bp 5'
Search 100 bp 3'