Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.135998617_135998618delinsTA , CM000685.2:g.135998617_135998618delinsTA	GRCh38
NC_000023.10:g.135080776_135080777delinsTA , CM000685.1:g.135080776_135080777delinsTA	GRCh37
NC_000023.9:g.134908442_134908443delinsTA	NCBI36
NG_017160.1:g.18191_18192delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370695.8:c.680+59_680+60delinsTA	ENSP00000359729.4:n.680+59_680+60delinsTA
ENST00000370701.6:c.524+59_524+60delinsTA	ENSP00000359735.1:n.524+59_524+60delinsTA
ENST00000630721.3:c.524+59_524+60delinsTA MANE Select	ENSP00000487486.2:n.524+59_524+60delinsTA
ENST00000636092.1:c.524+59_524+60delinsTA	ENSP00000490406.1:n.524+59_524+60delinsTA
ENST00000636347.1:c.524+59_524+60delinsTA	ENSP00000490648.1:n.524+59_524+60delinsTA
ENST00000637195.1:c.428+59_428+60delinsTA	ENSP00000490330.1:n.428+59_428+60delinsTA
ENST00000637234.1:c.524+59_524+60delinsTA	ENSP00000490527.1:n.524+59_524+60delinsTA
ENST00000637581.1:c.524+59_524+60delinsTA	ENSP00000490731.1:n.524+59_524+60delinsTA
ENST00000643775.1:n.467+59_467+60delinsTA
ENST00000674809.1:c.467+59_467+60delinsTA	ENSP00000502455.1:n.467+59_467+60delinsTA
ENST00000675550.1:n.465+59_465+60delinsTA
ENST00000675856.1:n.467+59_467+60delinsTA
ENST00000676043.1:c.467+59_467+60delinsTA	ENSP00000501920.1:n.467+59_467+60delinsTA
ENST00000678163.1:c.680+59_680+60delinsTA	ENSP00000502845.1:n.680+59_680+60delinsTA
ENST00000370695.6:c.680+59_680+60delinsTA	ENSP00000359729.4:n.680+59_680+60delinsTA
ENST00000370698.7:c.584+59_584+60delinsTA	ENSP00000359732.3:n.584+59_584+60delinsTA
ENST00000370701.5:c.524+59_524+60delinsTA	ENSP00000359735.1:n.524+59_524+60delinsTA
ENST00000627534.2:c.524+59_524+60delinsTA	ENSP00000486743.1:n.524+59_524+60delinsTA
NM_001042537.1:c.680+59_680+60delinsTA	NP_001036002.1:n.680+59_680+60delinsTA
NM_001177651.1:c.524+59_524+60delinsTA	NP_001171122.1:n.524+59_524+60delinsTA
NM_006359.2:c.584+59_584+60delinsTA	NP_006350.1:n.584+59_584+60delinsTA
XM_006724726.2:c.524+59_524+60delinsTA	XP_006724789.1:n.524+59_524+60delinsTA
XM_011531243.1:c.428+59_428+60delinsTA	XP_011529545.1:n.428+59_428+60delinsTA
NM_001330652.1:c.428+59_428+60delinsTA	NP_001317581.1:n.428+59_428+60delinsTA
XM_006724726.3:c.524+59_524+60delinsTA	XP_006724789.1:n.524+59_524+60delinsTA
XM_017029223.2:c.524+59_524+60delinsTA	XP_016884712.1:n.524+59_524+60delinsTA
XM_017029224.1:c.524+59_524+60delinsTA	XP_016884713.1:n.524+59_524+60delinsTA
XM_017029225.1:c.428+59_428+60delinsTA	XP_016884714.1:n.428+59_428+60delinsTA
NM_001177651.2:c.524+59_524+60delinsTA	NP_001171122.1:n.524+59_524+60delinsTA
NM_001330652.2:c.428+59_428+60delinsTA	NP_001317581.1:n.428+59_428+60delinsTA
NM_006359.3:c.584+59_584+60delinsTA	NP_006350.1:n.584+59_584+60delinsTA
NM_001042537.2:c.680+59_680+60delinsTA	NP_001036002.1:n.680+59_680+60delinsTA
NM_001379110.1:c.524+59_524+60delinsTA MANE Select	NP_001366039.1:n.524+59_524+60delinsTA
NM_001400909.1:c.524+59_524+60delinsTA	NP_001387838.1:n.524+59_524+60delinsTA
NM_001400910.1:c.524+59_524+60delinsTA	NP_001387839.1:n.524+59_524+60delinsTA
NM_001400911.1:c.524+59_524+60delinsTA	NP_001387840.1:n.524+59_524+60delinsTA
NM_001400912.1:c.524+59_524+60delinsTA	NP_001387841.1:n.524+59_524+60delinsTA
NM_001400913.1:c.428+59_428+60delinsTA	NP_001387842.1:n.428+59_428+60delinsTA