Canonical Allele Identifier: CA2620282670

Gene: HAL

Linked Data

• gnomAD v4: 12-95990603-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990608del , CM000674.2:g.95990608del	GRCh38
NC_000012.11:g.96384386del , CM000674.1:g.96384386del	GRCh37
NC_000012.10:g.94908517del	NCBI36
NG_008180.1:g.10690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.716-72del MANE Select	ENSP00000261208.3:n.716-72del
ENST00000261208.7:c.716-72del	ENSP00000261208.3:n.716-72del
ENST00000538703.5:c.716-72del	ENSP00000440861.1:n.716-72del
ENST00000541929.5:c.92-72del	ENSP00000446364.1:n.92-72del
ENST00000544080.6:c.*145-72del	ENSP00000439385.2:n.*145-72del
ENST00000546579.1:c.446-72del	ENSP00000447543.1:n.446-72del
ENST00000546999.5:c.*145-72del	ENSP00000447675.1:n.*145-72del
ENST00000549376.1:n.109-72del
ENST00000552509.5:c.680-72del	ENSP00000450372.1:n.680-72del
NM_001258333.1:c.92-72del	NP_001245262.1:n.92-72del
NM_001258334.1:c.716-72del	NP_001245263.1:n.716-72del
NM_002108.3:c.716-72del	NP_002099.1:n.716-72del
XM_011538249.1:c.3+2076del	XP_011536551.1:n.3+2076del
XM_011538249.2:c.3+2076del	XP_011536551.1:n.3+2076del
NM_002108.4:c.716-72del MANE Select	NP_002099.1:n.716-72del
NM_001258334.2:c.716-72del	NP_001245263.1:n.716-72del
NM_001258333.2:c.92-72del	NP_001245262.1:n.92-72del