Canonical Allele Identifier: CA950774716

Gene: HAL

Linked Data

• dbSNP Id: rs1949959623
• gnomAD v3: 12-95990752-GGAA-G
• gnomAD v4: 12-95990752-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990758_95990760del , CM000674.2:g.95990758_95990760del	GRCh38
NC_000012.11:g.96384536_96384538del , CM000674.1:g.96384536_96384538del	GRCh37
NC_000012.10:g.94908667_94908669del	NCBI36
NG_008180.1:g.10539_10541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-223_716-221del MANE Select	ENSP00000261208.3:n.716-223_716-221del
ENST00000261208.7:c.716-223_716-221del	ENSP00000261208.3:n.716-223_716-221del
ENST00000538703.5:c.716-223_716-221del	ENSP00000440861.1:n.716-223_716-221del
ENST00000541929.5:c.92-223_92-221del	ENSP00000446364.1:n.92-223_92-221del
ENST00000544080.6:c.*145-223_*145-221del	ENSP00000439385.2:n.*145-223_*145-221del
ENST00000546579.1:c.446-223_446-221del	ENSP00000447543.1:n.446-223_446-221del
ENST00000546999.5:c.*145-223_*145-221del	ENSP00000447675.1:n.*145-223_*145-221del
ENST00000549376.1:n.109-223_109-221del
ENST00000552509.5:c.680-223_680-221del	ENSP00000450372.1:n.680-223_680-221del
NM_001258333.1:c.92-223_92-221del	NP_001245262.1:n.92-223_92-221del
NM_001258334.1:c.716-223_716-221del	NP_001245263.1:n.716-223_716-221del
NM_002108.3:c.716-223_716-221del	NP_002099.1:n.716-223_716-221del
XM_011538249.1:c.3+1925_3+1927del	XP_011536551.1:n.3+1925_3+1927del
XM_011538249.2:c.3+1925_3+1927del	XP_011536551.1:n.3+1925_3+1927del
NM_002108.4:c.716-223_716-221del MANE Select	NP_002099.1:n.716-223_716-221del
NM_001258334.2:c.716-223_716-221del	NP_001245263.1:n.716-223_716-221del
NM_001258333.2:c.92-223_92-221del	NP_001245262.1:n.92-223_92-221del