Canonical Allele Identifier: CA2620277506

Gene: HAL

Linked Data

• gnomAD v4: 12-95980828-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980830del , CM000674.2:g.95980830del	GRCh38
NC_000012.11:g.96374608del , CM000674.1:g.96374608del	GRCh37
NC_000012.10:g.94898739del	NCBI36
NG_008180.1:g.20465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1322del MANE Select	ENSP00000261208.3:p.Gly441GlufsTer13
ENST00000261208.7:c.1322del	ENSP00000261208.3:p.Gly441GlufsTer13
ENST00000538703.5:c.1322del	ENSP00000440861.1:p.Gly441GlufsTer13
ENST00000541929.5:c.698del	ENSP00000446364.1:p.Gly233GlufsTer13
ENST00000544080.6:c.*751del	ENSP00000439385.2:n.*751del
ENST00000546999.5:c.*751del	ENSP00000447675.1:n.*751del
NM_001258333.1:c.698del	NP_001245262.1:p.Gly233GlufsTer13
NM_001258334.1:c.1322del	NP_001245263.1:p.Gly441GlufsTer13
NM_002108.3:c.1322del	NP_002099.1:p.Gly441GlufsTer13
XM_011538249.1:c.470del	XP_011536551.1:p.Gly157GlufsTer13
XM_011538249.2:c.470del	XP_011536551.1:p.Gly157GlufsTer13
XM_017019246.1:c.392del	XP_016874735.1:p.Gly131GlufsTer13
NM_002108.4:c.1322del MANE Select	NP_002099.1:p.Gly441GlufsTer13
NM_001258334.2:c.1322del	NP_001245263.1:p.Gly441GlufsTer13
NM_001258333.2:c.698del	NP_001245262.1:p.Gly233GlufsTer13