Canonical Allele Identifier: CA2620282760

Gene: HAL

Linked Data

• gnomAD v4: 12-95990657-AGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990658_95990660del , CM000674.2:g.95990658_95990660del	GRCh38
NC_000012.11:g.96384436_96384438del , CM000674.1:g.96384436_96384438del	GRCh37
NC_000012.10:g.94908567_94908569del	NCBI36
NG_008180.1:g.10634_10636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-128_716-126del MANE Select	ENSP00000261208.3:n.716-128_716-126del
ENST00000261208.7:c.716-128_716-126del	ENSP00000261208.3:n.716-128_716-126del
ENST00000538703.5:c.716-128_716-126del	ENSP00000440861.1:n.716-128_716-126del
ENST00000541929.5:c.92-128_92-126del	ENSP00000446364.1:n.92-128_92-126del
ENST00000544080.6:c.*145-128_*145-126del	ENSP00000439385.2:n.*145-128_*145-126del
ENST00000546579.1:c.446-128_446-126del	ENSP00000447543.1:n.446-128_446-126del
ENST00000546999.5:c.*145-128_*145-126del	ENSP00000447675.1:n.*145-128_*145-126del
ENST00000549376.1:n.109-128_109-126del
ENST00000552509.5:c.680-128_680-126del	ENSP00000450372.1:n.680-128_680-126del
NM_001258333.1:c.92-128_92-126del	NP_001245262.1:n.92-128_92-126del
NM_001258334.1:c.716-128_716-126del	NP_001245263.1:n.716-128_716-126del
NM_002108.3:c.716-128_716-126del	NP_002099.1:n.716-128_716-126del
XM_011538249.1:c.3+2020_3+2022del	XP_011536551.1:n.3+2020_3+2022del
XM_011538249.2:c.3+2020_3+2022del	XP_011536551.1:n.3+2020_3+2022del
NM_002108.4:c.716-128_716-126del MANE Select	NP_002099.1:n.716-128_716-126del
NM_001258334.2:c.716-128_716-126del	NP_001245263.1:n.716-128_716-126del
NM_001258333.2:c.92-128_92-126del	NP_001245262.1:n.92-128_92-126del