Canonical Allele Identifier: CA693780891

Gene: HAL

Linked Data

• dbSNP Id: rs1266550391
• gnomAD v3: 12-95990640-CTAT-C
• gnomAD v4: 12-95990640-CTAT-C
• MyVariant Identifiers: chr12:g.96384419_96384421del (hg19) ; chr12:g.95990641_95990643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990641_95990643del , CM000674.2:g.95990641_95990643del	GRCh38
NC_000012.11:g.96384419_96384421del , CM000674.1:g.96384419_96384421del	GRCh37
NC_000012.10:g.94908550_94908552del	NCBI36
NG_008180.1:g.10651_10653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-111_716-109del MANE Select	ENSP00000261208.3:n.716-111_716-109del
ENST00000261208.7:c.716-111_716-109del	ENSP00000261208.3:n.716-111_716-109del
ENST00000538703.5:c.716-111_716-109del	ENSP00000440861.1:n.716-111_716-109del
ENST00000541929.5:c.92-111_92-109del	ENSP00000446364.1:n.92-111_92-109del
ENST00000544080.6:c.*145-111_*145-109del	ENSP00000439385.2:n.*145-111_*145-109del
ENST00000546579.1:c.446-111_446-109del	ENSP00000447543.1:n.446-111_446-109del
ENST00000546999.5:c.*145-111_*145-109del	ENSP00000447675.1:n.*145-111_*145-109del
ENST00000549376.1:n.109-111_109-109del
ENST00000552509.5:c.680-111_680-109del	ENSP00000450372.1:n.680-111_680-109del
NM_001258333.1:c.92-111_92-109del	NP_001245262.1:n.92-111_92-109del
NM_001258334.1:c.716-111_716-109del	NP_001245263.1:n.716-111_716-109del
NM_002108.3:c.716-111_716-109del	NP_002099.1:n.716-111_716-109del
XM_011538249.1:c.3+2037_3+2039del	XP_011536551.1:n.3+2037_3+2039del
XM_011538249.2:c.3+2037_3+2039del	XP_011536551.1:n.3+2037_3+2039del
NM_002108.4:c.716-111_716-109del MANE Select	NP_002099.1:n.716-111_716-109del
NM_001258334.2:c.716-111_716-109del	NP_001245263.1:n.716-111_716-109del
NM_001258333.2:c.92-111_92-109del	NP_001245262.1:n.92-111_92-109del