Canonical Allele Identifier: CA2541150896
Gene: HLX-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220837290_220837291insCCGTATTTATTTCTTT , CM000663.2:g.220837290_220837291insCCGTATTTATTTCTTT GRCh38
NC_000001.10:g.221010632_221010633insCCGTATTTATTTCTTT , CM000663.1:g.221010632_221010633insCCGTATTTATTTCTTT GRCh37
NC_000001.9:g.219077255_219077256insCCGTATTTATTTCTTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651706.1:c.842+32016_842+32017insCCGTATTTATTTCTTT ENSP00000499157.1:n.842+32016_842+32017insCCGTATTTATTTCTTT
NR_046901.1:n.293-4099_293-4098insAAAGAAATAAATACGG