Canonical Allele Identifier: CA693780916

Gene: HAL

Linked Data

• dbSNP Id: rs1268607230
• gnomAD v3: 12-95990753-GAAGAA-G
• gnomAD v4: 12-95990753-GAAGAA-G
• MyVariant Identifiers: chr12:g.96384532_96384536del (hg19) ; chr12:g.95990754_95990758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990754_95990758del , CM000674.2:g.95990754_95990758del	GRCh38
NC_000012.11:g.96384532_96384536del , CM000674.1:g.96384532_96384536del	GRCh37
NC_000012.10:g.94908663_94908667del	NCBI36
NG_008180.1:g.10536_10540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-226_716-222del MANE Select	ENSP00000261208.3:n.716-226_716-222del
ENST00000261208.7:c.716-226_716-222del	ENSP00000261208.3:n.716-226_716-222del
ENST00000538703.5:c.716-226_716-222del	ENSP00000440861.1:n.716-226_716-222del
ENST00000541929.5:c.92-226_92-222del	ENSP00000446364.1:n.92-226_92-222del
ENST00000544080.6:c.*145-226_*145-222del	ENSP00000439385.2:n.*145-226_*145-222del
ENST00000546579.1:c.446-226_446-222del	ENSP00000447543.1:n.446-226_446-222del
ENST00000546999.5:c.*145-226_*145-222del	ENSP00000447675.1:n.*145-226_*145-222del
ENST00000549376.1:n.109-226_109-222del
ENST00000552509.5:c.680-226_680-222del	ENSP00000450372.1:n.680-226_680-222del
NM_001258333.1:c.92-226_92-222del	NP_001245262.1:n.92-226_92-222del
NM_001258334.1:c.716-226_716-222del	NP_001245263.1:n.716-226_716-222del
NM_002108.3:c.716-226_716-222del	NP_002099.1:n.716-226_716-222del
XM_011538249.1:c.3+1922_3+1926del	XP_011536551.1:n.3+1922_3+1926del
XM_011538249.2:c.3+1922_3+1926del	XP_011536551.1:n.3+1922_3+1926del
NM_002108.4:c.716-226_716-222del MANE Select	NP_002099.1:n.716-226_716-222del
NM_001258334.2:c.716-226_716-222del	NP_001245263.1:n.716-226_716-222del
NM_001258333.2:c.92-226_92-222del	NP_001245262.1:n.92-226_92-222del