Canonical Allele Identifier: CA2056500063

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95980812_95980813delinsCA , CM000674.2:g.95980812_95980813delinsCA	GRCh38
NC_000012.11:g.96374590_96374591delinsCA , CM000674.1:g.96374590_96374591delinsCA	GRCh37
NC_000012.10:g.94898721_94898722delinsCA	NCBI36
NG_008180.1:g.20481_20482delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.1338_1339delinsTG MANE Select	ENSP00000261208.3:p.Gly446=
ENST00000261208.7:c.1338_1339delinsTG	ENSP00000261208.3:p.Gly446=
ENST00000538703.5:c.1338_1339delinsTG	ENSP00000440861.1:p.Gly446=
ENST00000541929.5:c.714_715delinsTG	ENSP00000446364.1:p.Gly238=
ENST00000544080.6:c.*767_*768delinsTG	ENSP00000439385.2:n.*767_*768delinsTG
ENST00000546999.5:c.*765+2_*765+3delinsTG	ENSP00000447675.1:n.*765+2_*765+3delinsTG
NM_001258333.1:c.714_715delinsTG	NP_001245262.1:p.Gly238=
NM_001258334.1:c.1338_1339delinsTG	NP_001245263.1:p.Gly446=
NM_002108.3:c.1338_1339delinsTG	NP_002099.1:p.Gly446=
XM_011538249.1:c.486_487delinsTG	XP_011536551.1:p.Gly162=
XM_011538249.2:c.486_487delinsTG	XP_011536551.1:p.Gly162=
XM_017019246.1:c.408_409delinsTG	XP_016874735.1:p.Gly136=
NM_002108.4:c.1338_1339delinsTG MANE Select	NP_002099.1:p.Gly446=
NM_001258334.2:c.1338_1339delinsTG	NP_001245263.1:p.Gly446=
NM_001258333.2:c.714_715delinsTG	NP_001245262.1:p.Gly238=