Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.135985685_135985687del , CM000685.2:g.135985685_135985687del	GRCh38
NC_000023.10:g.135067844_135067846del , CM000685.1:g.135067844_135067846del	GRCh37
NC_000023.9:g.134895510_134895512del	NCBI36
NG_017160.1:g.5259_5261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370695.8:c.183_185del	ENSP00000359729.4:p.Gln62del
ENST00000370701.6:c.27_29del	ENSP00000359735.1:p.Gln10del
ENST00000630721.3:c.27_29del MANE Select	ENSP00000487486.2:p.Gln10del
ENST00000636092.1:c.27_29del	ENSP00000490406.1:p.Gln10del
ENST00000636347.1:c.27_29del	ENSP00000490648.1:p.Gln10del
ENST00000637195.1:c.27_29del	ENSP00000490330.1:p.Gln10del
ENST00000637234.1:c.27_29del	ENSP00000490527.1:p.Gln10del
ENST00000637581.1:c.27_29del	ENSP00000490731.1:p.Gln10del
ENST00000678163.1:c.183_185del	ENSP00000502845.1:p.Gln62del
ENST00000370695.6:c.183_185del	ENSP00000359729.4:p.Gln62del
ENST00000370698.7:c.183_185del	ENSP00000359732.3:p.Gln62del
ENST00000370701.5:c.27_29del	ENSP00000359735.1:p.Gln10del
ENST00000627534.2:c.27_29del	ENSP00000486743.1:p.Gln10del
NM_001042537.1:c.183_185del	NP_001036002.1:p.Gln62del
NM_001177651.1:c.27_29del	NP_001171122.1:p.Gln10del
NM_006359.2:c.183_185del	NP_006350.1:p.Gln62del
XM_006724726.2:c.27_29del	XP_006724789.1:p.Gln10del
XM_011531243.1:c.27_29del	XP_011529545.1:p.Gln10del
NM_001330652.1:c.27_29del	NP_001317581.1:p.Gln10del
XM_006724726.3:c.27_29del	XP_006724789.1:p.Gln10del
XM_017029223.2:c.27_29del	XP_016884712.1:p.Gln10del
XM_017029224.1:c.27_29del	XP_016884713.1:p.Gln10del
XM_017029225.1:c.27_29del	XP_016884714.1:p.Gln10del
NM_001177651.2:c.27_29del	NP_001171122.1:p.Gln10del
NM_001330652.2:c.27_29del	NP_001317581.1:p.Gln10del
NM_006359.3:c.183_185del	NP_006350.1:p.Gln62del
NM_001042537.2:c.183_185del	NP_001036002.1:p.Gln62del
NM_001379110.1:c.27_29del MANE Select	NP_001366039.1:p.Gln10del
NM_001400909.1:c.27_29del	NP_001387838.1:p.Gln10del
NM_001400910.1:c.27_29del	NP_001387839.1:p.Gln10del
NM_001400911.1:c.27_29del	NP_001387840.1:p.Gln10del
NM_001400912.1:c.27_29del	NP_001387841.1:p.Gln10del
NM_001400913.1:c.27_29del	NP_001387842.1:p.Gln10del