Canonical Allele Identifier: CA2056507147

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990161_95990162delinsGC , CM000674.2:g.95990161_95990162delinsGC	GRCh38
NC_000012.11:g.96383939_96383940delinsGC , CM000674.1:g.96383939_96383940delinsGC	GRCh37
NC_000012.10:g.94908070_94908071delinsGC	NCBI36
NG_008180.1:g.11132_11133delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.855+231_855+232delinsGC MANE Select	ENSP00000261208.3:n.855+231_855+232delinsGC
ENST00000261208.7:c.855+231_855+232delinsGC	ENSP00000261208.3:n.855+231_855+232delinsGC
ENST00000538703.5:c.855+231_855+232delinsGC	ENSP00000440861.1:n.855+231_855+232delinsGC
ENST00000541929.5:c.231+231_231+232delinsGC	ENSP00000446364.1:n.231+231_231+232delinsGC
ENST00000544080.6:c.*284+231_*284+232delinsGC	ENSP00000439385.2:n.*284+231_*284+232delinsGC
ENST00000546999.5:c.*284+231_*284+232delinsGC	ENSP00000447675.1:n.*284+231_*284+232delinsGC
ENST00000551562.1:n.115+231_115+232delinsGC
ENST00000552509.5:c.819+231_819+232delinsGC	ENSP00000450372.1:n.819+231_819+232delinsGC
NM_001258333.1:c.231+231_231+232delinsGC	NP_001245262.1:n.231+231_231+232delinsGC
NM_001258334.1:c.855+231_855+232delinsGC	NP_001245263.1:n.855+231_855+232delinsGC
NM_002108.3:c.855+231_855+232delinsGC	NP_002099.1:n.855+231_855+232delinsGC
XM_011538249.1:c.4-1922_4-1921delinsGC	XP_011536551.1:n.4-1922_4-1921delinsGC
XM_011538249.2:c.4-1922_4-1921delinsGC	XP_011536551.1:n.4-1922_4-1921delinsGC
XM_017019246.1:c.-396_-395delinsGC	XP_016874735.1:n.-396_-395delinsGC
NM_002108.4:c.855+231_855+232delinsGC MANE Select	NP_002099.1:n.855+231_855+232delinsGC
NM_001258334.2:c.855+231_855+232delinsGC	NP_001245263.1:n.855+231_855+232delinsGC
NM_001258333.2:c.231+231_231+232delinsGC	NP_001245262.1:n.231+231_231+232delinsGC