Canonical Allele Identifier: CA2056507627

Gene: HAL

Linked Data

• dbSNP Id: rs1949957758
• gnomAD v4: 12-95990654-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990655dup , CM000674.2:g.95990655dup	GRCh38
NC_000012.11:g.96384433dup , CM000674.1:g.96384433dup	GRCh37
NC_000012.10:g.94908564dup	NCBI36
NG_008180.1:g.10639dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-123dup MANE Select	ENSP00000261208.3:n.716-123dup
ENST00000261208.7:c.716-123dup	ENSP00000261208.3:n.716-123dup
ENST00000538703.5:c.716-123dup	ENSP00000440861.1:n.716-123dup
ENST00000541929.5:c.92-123dup	ENSP00000446364.1:n.92-123dup
ENST00000544080.6:c.*145-123dup	ENSP00000439385.2:n.*145-123dup
ENST00000546579.1:c.446-123dup	ENSP00000447543.1:n.446-123dup
ENST00000546999.5:c.*145-123dup	ENSP00000447675.1:n.*145-123dup
ENST00000549376.1:n.109-123dup
ENST00000552509.5:c.680-123dup	ENSP00000450372.1:n.680-123dup
NM_001258333.1:c.92-123dup	NP_001245262.1:n.92-123dup
NM_001258334.1:c.716-123dup	NP_001245263.1:n.716-123dup
NM_002108.3:c.716-123dup	NP_002099.1:n.716-123dup
XM_011538249.1:c.3+2025dup	XP_011536551.1:n.3+2025dup
XM_011538249.2:c.3+2025dup	XP_011536551.1:n.3+2025dup
NM_002108.4:c.716-123dup MANE Select	NP_002099.1:n.716-123dup
NM_001258334.2:c.716-123dup	NP_001245263.1:n.716-123dup
NM_001258333.2:c.92-123dup	NP_001245262.1:n.92-123dup