Canonical Allele Identifier: CA2536313172

Gene: HAL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95990118_95990120del , CM000674.2:g.95990118_95990120del	GRCh38
NC_000012.11:g.96383896_96383898del , CM000674.1:g.96383896_96383898del	GRCh37
NC_000012.10:g.94908027_94908029del	NCBI36
NG_008180.1:g.11177_11179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261208.8:c.855+276_855+278del MANE Select	ENSP00000261208.3:n.855+276_855+278del
ENST00000261208.7:c.855+276_855+278del	ENSP00000261208.3:n.855+276_855+278del
ENST00000538703.5:c.855+276_855+278del	ENSP00000440861.1:n.855+276_855+278del
ENST00000541929.5:c.231+276_231+278del	ENSP00000446364.1:n.231+276_231+278del
ENST00000544080.6:c.*284+276_*284+278del	ENSP00000439385.2:n.*284+276_*284+278del
ENST00000546999.5:c.*284+276_*284+278del	ENSP00000447675.1:n.*284+276_*284+278del
ENST00000551562.1:n.116-220_116-218del
ENST00000552509.5:c.819+276_819+278del	ENSP00000450372.1:n.819+276_819+278del
NM_001258333.1:c.231+276_231+278del	NP_001245262.1:n.231+276_231+278del
NM_001258334.1:c.855+276_855+278del	NP_001245263.1:n.855+276_855+278del
NM_002108.3:c.855+276_855+278del	NP_002099.1:n.855+276_855+278del
XM_011538249.1:c.4-1877_4-1875del	XP_011536551.1:n.4-1877_4-1875del
XM_011538249.2:c.4-1877_4-1875del	XP_011536551.1:n.4-1877_4-1875del
XM_017019246.1:c.-351_-349del	XP_016874735.1:n.-351_-349del
NM_002108.4:c.855+276_855+278del MANE Select	NP_002099.1:n.855+276_855+278del
NM_001258334.2:c.855+276_855+278del	NP_001245263.1:n.855+276_855+278del
NM_001258333.2:c.231+276_231+278del	NP_001245262.1:n.231+276_231+278del