Canonical Allele Identifier: CA919151891

Gene: HAL

Linked Data

• dbSNP Id: rs1565987140
• gnomAD v4: 12-95980812-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980813del , CM000674.2:g.95980813del	GRCh38
NC_000012.11:g.96374591del , CM000674.1:g.96374591del	GRCh37
NC_000012.10:g.94898722del	NCBI36
NG_008180.1:g.20481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1338del MANE Select	ENSP00000261208.3:p.Glu447AsnfsTer7
ENST00000261208.7:c.1338del	ENSP00000261208.3:p.Glu447AsnfsTer7
ENST00000538703.5:c.1338del	ENSP00000440861.1:p.Glu447AsnfsTer7
ENST00000541929.5:c.714del	ENSP00000446364.1:p.Glu239AsnfsTer7
ENST00000544080.6:c.*767del	ENSP00000439385.2:n.*767del
ENST00000546999.5:c.*765+2del	ENSP00000447675.1:n.*765+2del
NM_001258333.1:c.714del	NP_001245262.1:p.Glu239AsnfsTer7
NM_001258334.1:c.1338del	NP_001245263.1:p.Glu447AsnfsTer7
NM_002108.3:c.1338del	NP_002099.1:p.Glu447AsnfsTer7
XM_011538249.1:c.486del	XP_011536551.1:p.Glu163AsnfsTer7
XM_011538249.2:c.486del	XP_011536551.1:p.Glu163AsnfsTer7
XM_017019246.1:c.408del	XP_016874735.1:p.Glu137AsnfsTer7
NM_002108.4:c.1338del MANE Select	NP_002099.1:p.Glu447AsnfsTer7
NM_001258334.2:c.1338del	NP_001245263.1:p.Glu447AsnfsTer7
NM_001258333.2:c.714del	NP_001245262.1:p.Glu239AsnfsTer7