Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40363642_40363643del , CM000674.2:g.40363642_40363643del	GRCh38
NC_000012.11:g.40757444_40757445del , CM000674.1:g.40757444_40757445del	GRCh37
NC_000012.10:g.39043711_39043712del	NCBI36
NG_011709.1:g.143632_143633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.7181+88_7181+89del MANE Select	ENSP00000298910.7:n.7181+88_7181+89del
ENST00000636518.1:c.978+88_978+89del
ENST00000679360.1:c.6090+88_6090+89del	ENSP00000505368.1:n.6090+88_6090+89del
ENST00000679532.1:c.2955+88_2955+89del
ENST00000679683.1:c.971+88_971+89del
ENST00000680018.1:c.2626+88_2626+89del	ENSP00000505347.1:n.2626+88_2626+89del
ENST00000680422.1:c.4268+88_4268+89del
ENST00000680425.1:c.2348+88_2348+89del	ENSP00000506459.1:n.2348+88_2348+89del
ENST00000680453.1:c.2638+88_2638+89del
ENST00000680790.1:c.6926+88_6926+89del	ENSP00000505335.1:n.6926+88_6926+89del
ENST00000681136.1:n.3165+88_3165+89del
ENST00000681696.1:c.2864+88_2864+89del	ENSP00000505871.1:n.2864+88_2864+89del
ENST00000681773.1:n.388+88_388+89del
ENST00000298910.11:c.7181+88_7181+89del	ENSP00000298910.7:n.7181+88_7181+89del
ENST00000430804.5:c.4477+88_4477+89del
ENST00000479187.5:n.3862+88_3862+89del
NM_198578.3:c.7181+88_7181+89del	NP_940980.3:n.7181+88_7181+89del
XM_005268629.2:c.7181+88_7181+89del	XP_005268686.1:n.7181+88_7181+89del
XM_011537877.1:c.7181+88_7181+89del	XP_011536179.1:n.7181+88_7181+89del
XM_011537879.1:c.5978+88_5978+89del	XP_011536181.1:n.5978+88_5978+89del
XR_944868.1:n.485-8816_485-8815del
XM_005268629.4:c.7181+88_7181+89del	XP_005268686.1:n.7181+88_7181+89del
XM_011537877.3:c.7181+88_7181+89del	XP_011536179.1:n.7181+88_7181+89del
XM_017018787.1:c.4097+88_4097+89del	XP_016874276.1:n.4097+88_4097+89del
XM_017018788.2:c.3443+88_3443+89del	XP_016874277.1:n.3443+88_3443+89del
XM_024448833.1:c.5978+88_5978+89del	XP_024304601.1:n.5978+88_5978+89del
XR_944868.2:n.485-8816_485-8815del
NM_198578.4:c.7181+88_7181+89del MANE Select	NP_940980.4:n.7181+88_7181+89del