Canonical Allele Identifier: CA606772973

Gene: HAL

Linked Data

• dbSNP Id: rs1383376193
• gnomAD v2: 12-96384357-ACT-A
• gnomAD v3: 12-95990579-ACT-A
• gnomAD v4: 12-95990579-ACT-A
• MyVariant Identifiers: chr12:g.96384358_96384359del (hg19) ; chr12:g.95990580_95990581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990583_95990584del , CM000674.2:g.95990583_95990584del	GRCh38
NC_000012.11:g.96384361_96384362del , CM000674.1:g.96384361_96384362del	GRCh37
NC_000012.10:g.94908492_94908493del	NCBI36
NG_008180.1:g.10713_10714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-49_716-48del MANE Select	ENSP00000261208.3:n.716-49_716-48del
ENST00000261208.7:c.716-49_716-48del	ENSP00000261208.3:n.716-49_716-48del
ENST00000538703.5:c.716-49_716-48del	ENSP00000440861.1:n.716-49_716-48del
ENST00000541929.5:c.92-49_92-48del	ENSP00000446364.1:n.92-49_92-48del
ENST00000544080.6:c.*145-49_*145-48del	ENSP00000439385.2:n.*145-49_*145-48del
ENST00000546579.1:c.446-49_446-48del	ENSP00000447543.1:n.446-49_446-48del
ENST00000546999.5:c.*145-49_*145-48del	ENSP00000447675.1:n.*145-49_*145-48del
ENST00000549376.1:n.109-49_109-48del
ENST00000552509.5:c.680-49_680-48del	ENSP00000450372.1:n.680-49_680-48del
NM_001258333.1:c.92-49_92-48del	NP_001245262.1:n.92-49_92-48del
NM_001258334.1:c.716-49_716-48del	NP_001245263.1:n.716-49_716-48del
NM_002108.3:c.716-49_716-48del	NP_002099.1:n.716-49_716-48del
XM_011538249.1:c.3+2099_3+2100del	XP_011536551.1:n.3+2099_3+2100del
XM_011538249.2:c.3+2099_3+2100del	XP_011536551.1:n.3+2099_3+2100del
NM_002108.4:c.716-49_716-48del MANE Select	NP_002099.1:n.716-49_716-48del
NM_001258334.2:c.716-49_716-48del	NP_001245263.1:n.716-49_716-48del
NM_001258333.2:c.92-49_92-48del	NP_001245262.1:n.92-49_92-48del