Canonical Allele Identifier: CA1222592086
Gene: HLX-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220878491_220878503delinsAATTGAAAGCAGT , CM000663.2:g.220878491_220878503delinsAATTGAAAGCAGT GRCh38
NC_000001.10:g.221051833_221051845delinsAATTGAAAGCAGT , CM000663.1:g.221051833_221051845delinsAATTGAAAGCAGT GRCh37
NC_000001.9:g.219118456_219118468delinsAATTGAAAGCAGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.843-2703_843-2691delinsAATTGAAAGCAGT ENSP00000499157.1:n.843-2703_843-2691delinsAATTGAAAGCAGT
NR_046901.1:n.292+1346_292+1358delinsACTGCTTTCAATT
XM_011510307.1:c.556_568delinsACTGCTTTCAATT XP_011508609.1:p.Thr186=