Canonical Allele Identifier: CA1338125947
Gene: ASB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238440924_238440935delinsTGCCCACGTGGA , CM000664.2:g.238440924_238440935delinsTGCCCACGTGGA GRCh38
NC_000002.11:g.239349565_239349576delinsTGCCCACGTGGA , CM000664.1:g.239349565_239349576delinsTGCCCACGTGGA GRCh37
NC_000002.10:g.239014304_239014315delinsTGCCCACGTGGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264607.9:c.495-3418_495-3407delinsTGCCCACGTGGA MANE Select ENSP00000264607.4:n.495-3418_495-3407delinsTGCCCACGTGGA
ENST00000264607.8:c.495-3418_495-3407delinsTGCCCACGTGGA ENSP00000264607.4:n.495-3418_495-3407delinsTGCCCACGTGGA
ENST00000409297.1:c.192-3418_192-3407delinsTGCCCACGTGGA ENSP00000387025.1:n.192-3418_192-3407delinsTGCCCACGTGGA
ENST00000438264.5:c.*167-3418_*167-3407delinsTGCCCACGTGGA ENSP00000411773.1:n.*167-3418_*167-3407delinsTGCCCACGTGGA
ENST00000463352.5:n.536-3418_536-3407delinsTGCCCACGTGGA
ENST00000468122.1:n.94-3418_94-3407delinsTGCCCACGTGGA
ENST00000491653.1:n.686-3418_686-3407delinsTGCCCACGTGGA
NM_001040445.1:c.495-3418_495-3407delinsTGCCCACGTGGA NP_001035535.1:n.495-3418_495-3407delinsTGCCCACGTGGA
XM_005246080.1:c.192-3418_192-3407delinsTGCCCACGTGGA XP_005246137.1:n.192-3418_192-3407delinsTGCCCACGTGGA
XR_241236.1:n.825-3418_825-3407delinsTGCCCACGTGGA
XR_241237.1:n.825-3418_825-3407delinsTGCCCACGTGGA
NM_001040445.2:c.495-3418_495-3407delinsTGCCCACGTGGA NP_001035535.1:n.495-3418_495-3407delinsTGCCCACGTGGA
NM_001330196.1:c.192-3418_192-3407delinsTGCCCACGTGGA NP_001317125.1:n.192-3418_192-3407delinsTGCCCACGTGGA
NM_001040445.3:c.495-3418_495-3407delinsTGCCCACGTGGA MANE Select NP_001035535.1:n.495-3418_495-3407delinsTGCCCACGTGGA
NM_001330196.2:c.192-3418_192-3407delinsTGCCCACGTGGA NP_001317125.1:n.192-3418_192-3407delinsTGCCCACGTGGA