Canonical Allele Identifier: CA2056500089

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980835_95980836delinsAC , CM000674.2:g.95980835_95980836delinsAC	GRCh38
NC_000012.11:g.96374613_96374614delinsAC , CM000674.1:g.96374613_96374614delinsAC	GRCh37
NC_000012.10:g.94898744_94898745delinsAC	NCBI36
NG_008180.1:g.20458_20459delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1315_1316delinsGT MANE Select	ENSP00000261208.3:p.Val439=
ENST00000261208.7:c.1315_1316delinsGT	ENSP00000261208.3:p.Val439=
ENST00000538703.5:c.1315_1316delinsGT	ENSP00000440861.1:p.Val439=
ENST00000541929.5:c.691_692delinsGT	ENSP00000446364.1:p.Val231=
ENST00000544080.6:c.*744_*745delinsGT	ENSP00000439385.2:n.*744_*745delinsGT
ENST00000546999.5:c.*744_*745delinsGT	ENSP00000447675.1:n.*744_*745delinsGT
NM_001258333.1:c.691_692delinsGT	NP_001245262.1:p.Val231=
NM_001258334.1:c.1315_1316delinsGT	NP_001245263.1:p.Val439=
NM_002108.3:c.1315_1316delinsGT	NP_002099.1:p.Val439=
XM_011538249.1:c.463_464delinsGT	XP_011536551.1:p.Val155=
XM_011538249.2:c.463_464delinsGT	XP_011536551.1:p.Val155=
XM_017019246.1:c.385_386delinsGT	XP_016874735.1:p.Val129=
NM_002108.4:c.1315_1316delinsGT MANE Select	NP_002099.1:p.Val439=
NM_001258334.2:c.1315_1316delinsGT	NP_001245263.1:p.Val439=
NM_001258333.2:c.691_692delinsGT	NP_001245262.1:p.Val231=