Canonical Allele Identifier: CA2521328357

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990394_95990395insTACAG , CM000674.2:g.95990394_95990395insTACAG	GRCh38
NC_000012.11:g.96384172_96384173insTACAG , CM000674.1:g.96384172_96384173insTACAG	GRCh37
NC_000012.10:g.94908303_94908304insTACAG	NCBI36
NG_008180.1:g.10899_10900insCTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.853_854insCTGTA MANE Select	ENSP00000261208.3:p.Tyr285SerfsTer5
ENST00000261208.7:c.853_854insCTGTA	ENSP00000261208.3:p.Tyr285SerfsTer5
ENST00000538703.5:c.853_854insCTGTA	ENSP00000440861.1:p.Tyr285SerfsTer5
ENST00000541929.5:c.229_230insCTGTA	ENSP00000446364.1:p.Tyr77SerfsTer5
ENST00000544080.6:c.*282_*283insCTGTA	ENSP00000439385.2:n.*282_*283insCTGTA
ENST00000546999.5:c.*282_*283insCTGTA	ENSP00000447675.1:n.*282_*283insCTGTA
ENST00000549376.1:n.246_247insCTGTA
ENST00000551562.1:n.113_114insCTGTA
ENST00000552509.5:c.817_818insCTGTA	ENSP00000450372.1:p.Tyr273SerfsTer5
NM_001258333.1:c.229_230insCTGTA	NP_001245262.1:p.Tyr77SerfsTer5
NM_001258334.1:c.853_854insCTGTA	NP_001245263.1:p.Tyr285SerfsTer5
NM_002108.3:c.853_854insCTGTA	NP_002099.1:p.Tyr285SerfsTer5
XM_011538249.1:c.4-2155_4-2154insCTGTA	XP_011536551.1:n.4-2155_4-2154insCTGTA
XM_011538249.2:c.4-2155_4-2154insCTGTA	XP_011536551.1:n.4-2155_4-2154insCTGTA
NM_002108.4:c.853_854insCTGTA MANE Select	NP_002099.1:p.Tyr285SerfsTer5
NM_001258334.2:c.853_854insCTGTA	NP_001245263.1:p.Tyr285SerfsTer5
NM_001258333.2:c.229_230insCTGTA	NP_001245262.1:p.Tyr77SerfsTer5