Canonical Allele Identifier: CA2620282480

Gene: HAL

Linked Data

• gnomAD v4: 12-95990463-TGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990467_95990470del , CM000674.2:g.95990467_95990470del	GRCh38
NC_000012.11:g.96384245_96384248del , CM000674.1:g.96384245_96384248del	GRCh37
NC_000012.10:g.94908376_94908379del	NCBI36
NG_008180.1:g.10827_10830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.781_784del MANE Select	ENSP00000261208.3:p.Ser261IlefsTer6
ENST00000261208.7:c.781_784del	ENSP00000261208.3:p.Ser261IlefsTer6
ENST00000538703.5:c.781_784del	ENSP00000440861.1:p.Ser261IlefsTer6
ENST00000541929.5:c.157_160del	ENSP00000446364.1:p.Ser53IlefsTer6
ENST00000544080.6:c.*210_*213del	ENSP00000439385.2:n.*210_*213del
ENST00000546999.5:c.*210_*213del	ENSP00000447675.1:n.*210_*213del
ENST00000549376.1:n.174_177del
ENST00000551562.1:n.41_44del
ENST00000552509.5:c.745_748del	ENSP00000450372.1:p.Ser249IlefsTer6
NM_001258333.1:c.157_160del	NP_001245262.1:p.Ser53IlefsTer6
NM_001258334.1:c.781_784del	NP_001245263.1:p.Ser261IlefsTer6
NM_002108.3:c.781_784del	NP_002099.1:p.Ser261IlefsTer6
XM_011538249.1:c.3+2213_3+2216del	XP_011536551.1:n.3+2213_3+2216del
XM_011538249.2:c.3+2213_3+2216del	XP_011536551.1:n.3+2213_3+2216del
NM_002108.4:c.781_784del MANE Select	NP_002099.1:p.Ser261IlefsTer6
NM_001258334.2:c.781_784del	NP_001245263.1:p.Ser261IlefsTer6
NM_001258333.2:c.157_160del	NP_001245262.1:p.Ser53IlefsTer6