Canonical Allele Identifier: CA2620282432

Gene: HAL

Linked Data

• gnomAD v4: 12-95990400-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990401dup , CM000674.2:g.95990401dup	GRCh38
NC_000012.11:g.96384179dup , CM000674.1:g.96384179dup	GRCh37
NC_000012.10:g.94908310dup	NCBI36
NG_008180.1:g.10893dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.847dup MANE Select	ENSP00000261208.3:p.Ala283GlyfsTer2
ENST00000261208.7:c.847dup	ENSP00000261208.3:p.Ala283GlyfsTer2
ENST00000538703.5:c.847dup	ENSP00000440861.1:p.Ala283GlyfsTer2
ENST00000541929.5:c.223dup	ENSP00000446364.1:p.Ala75GlyfsTer2
ENST00000544080.6:c.*276dup	ENSP00000439385.2:n.*276dup
ENST00000546999.5:c.*276dup	ENSP00000447675.1:n.*276dup
ENST00000549376.1:n.240dup
ENST00000551562.1:n.107dup
ENST00000552509.5:c.811dup	ENSP00000450372.1:p.Ala271GlyfsTer2
NM_001258333.1:c.223dup	NP_001245262.1:p.Ala75GlyfsTer2
NM_001258334.1:c.847dup	NP_001245263.1:p.Ala283GlyfsTer2
NM_002108.3:c.847dup	NP_002099.1:p.Ala283GlyfsTer2
XM_011538249.1:c.4-2161dup	XP_011536551.1:n.4-2161dup
XM_011538249.2:c.4-2161dup	XP_011536551.1:n.4-2161dup
NM_002108.4:c.847dup MANE Select	NP_002099.1:p.Ala283GlyfsTer2
NM_001258334.2:c.847dup	NP_001245263.1:p.Ala283GlyfsTer2
NM_001258333.2:c.223dup	NP_001245262.1:p.Ala75GlyfsTer2