Canonical Allele Identifier: CA2575252552
Gene: HAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95990548del , CM000674.2:g.95990548del GRCh38
NC_000012.11:g.96384326del , CM000674.1:g.96384326del GRCh37
NC_000012.10:g.94908457del NCBI36
NG_008180.1:g.10747del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261208.8:c.716-15del MANE Select ENSP00000261208.3:n.716-15del
ENST00000261208.7:c.716-15del ENSP00000261208.3:n.716-15del
ENST00000538703.5:c.716-15del ENSP00000440861.1:n.716-15del
ENST00000541929.5:c.92-15del ENSP00000446364.1:n.92-15del
ENST00000544080.6:c.*145-15del ENSP00000439385.2:n.*145-15del
ENST00000546579.1:c.446-15del ENSP00000447543.1:n.446-15del
ENST00000546999.5:c.*145-15del ENSP00000447675.1:n.*145-15del
ENST00000549376.1:n.109-15del
ENST00000552509.5:c.680-15del ENSP00000450372.1:n.680-15del
NM_001258333.1:c.92-15del NP_001245262.1:n.92-15del
NM_001258334.1:c.716-15del NP_001245263.1:n.716-15del
NM_002108.3:c.716-15del NP_002099.1:n.716-15del
XM_011538249.1:c.3+2133del XP_011536551.1:n.3+2133del
XM_011538249.2:c.3+2133del XP_011536551.1:n.3+2133del
NM_002108.4:c.716-15del MANE Select NP_002099.1:n.716-15del
NM_001258334.2:c.716-15del NP_001245263.1:n.716-15del
NM_001258333.2:c.92-15del NP_001245262.1:n.92-15del