Canonical Allele Identifier: CA2056507708

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990752_95990755delinsGGAA , CM000674.2:g.95990752_95990755delinsGGAA	GRCh38
NC_000012.11:g.96384530_96384533delinsGGAA , CM000674.1:g.96384530_96384533delinsGGAA	GRCh37
NC_000012.10:g.94908661_94908664delinsGGAA	NCBI36
NG_008180.1:g.10539_10542delinsTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-223_716-220delinsTTCC MANE Select	ENSP00000261208.3:n.716-223_716-220delinsTTCC
ENST00000261208.7:c.716-223_716-220delinsTTCC	ENSP00000261208.3:n.716-223_716-220delinsTTCC
ENST00000538703.5:c.716-223_716-220delinsTTCC	ENSP00000440861.1:n.716-223_716-220delinsTTCC
ENST00000541929.5:c.92-223_92-220delinsTTCC	ENSP00000446364.1:n.92-223_92-220delinsTTCC
ENST00000544080.6:c.*145-223_*145-220delinsTTCC	ENSP00000439385.2:n.*145-223_*145-220delinsTTCC
ENST00000546579.1:c.446-223_446-220delinsTTCC	ENSP00000447543.1:n.446-223_446-220delinsTTCC
ENST00000546999.5:c.*145-223_*145-220delinsTTCC	ENSP00000447675.1:n.*145-223_*145-220delinsTTCC
ENST00000549376.1:n.109-223_109-220delinsTTCC
ENST00000552509.5:c.680-223_680-220delinsTTCC	ENSP00000450372.1:n.680-223_680-220delinsTTCC
NM_001258333.1:c.92-223_92-220delinsTTCC	NP_001245262.1:n.92-223_92-220delinsTTCC
NM_001258334.1:c.716-223_716-220delinsTTCC	NP_001245263.1:n.716-223_716-220delinsTTCC
NM_002108.3:c.716-223_716-220delinsTTCC	NP_002099.1:n.716-223_716-220delinsTTCC
XM_011538249.1:c.3+1925_3+1928delinsTTCC	XP_011536551.1:n.3+1925_3+1928delinsTTCC
XM_011538249.2:c.3+1925_3+1928delinsTTCC	XP_011536551.1:n.3+1925_3+1928delinsTTCC
NM_002108.4:c.716-223_716-220delinsTTCC MANE Select	NP_002099.1:n.716-223_716-220delinsTTCC
NM_001258334.2:c.716-223_716-220delinsTTCC	NP_001245263.1:n.716-223_716-220delinsTTCC
NM_001258333.2:c.92-223_92-220delinsTTCC	NP_001245262.1:n.92-223_92-220delinsTTCC