Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36687350_36687352delinsCAA , CM000667.2:g.36687350_36687352delinsCAA	GRCh38
NC_000005.9:g.36687452_36687454delinsCAA , CM000667.1:g.36687452_36687454delinsCAA	GRCh37
NC_000005.8:g.36723209_36723211delinsCAA	NCBI36
NG_015890.1:g.85996_85998delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265113.9:c.1081_1083delinsCAA MANE Select	ENSP00000265113.4:n.1081_1083delinsCAA
ENST00000381918.4:c.1081_1083delinsCAA	ENSP00000371343.4:n.1081_1083delinsCAA
ENST00000612708.5:c.1081_1083delinsCAA	ENSP00000483657.1:n.1081_1083delinsCAA
ENST00000613445.5:c.1081_1083delinsCAA	ENSP00000477672.1:n.1081_1083delinsCAA
ENST00000624112.2:n.5703_5705delinsCAA
ENST00000679784.1:c.2622_2624delinsCAA	ENSP00000506030.1:n.2622_2624delinsCAA
ENST00000679852.1:c.1520_1522delinsCAA
ENST00000679958.1:c.1203_1205delinsCAA	ENSP00000505246.1:n.1203_1205delinsCAA
ENST00000679983.1:c.1081_1083delinsCAA	ENSP00000505238.1:n.1081_1083delinsCAA
ENST00000679992.1:c.1081_1083delinsCAA	ENSP00000506585.1:n.1081_1083delinsCAA
ENST00000680048.1:c.3203_3205delinsCAA	ENSP00000505296.1:n.3203_3205delinsCAA
ENST00000680125.1:c.1081_1083delinsCAA	ENSP00000506424.1:n.1081_1083delinsCAA
ENST00000680232.1:c.1081_1083delinsCAA	ENSP00000506207.1:n.1081_1083delinsCAA
ENST00000680318.1:c.1081_1083delinsCAA	ENSP00000505057.1:n.1081_1083delinsCAA
ENST00000680568.1:n.1938_1940delinsCAA
ENST00000680655.1:c.2422_2424delinsCAA	ENSP00000506436.1:n.2422_2424delinsCAA
ENST00000680876.1:n.5891_5893delinsCAA
ENST00000680878.1:n.5756_5758delinsCAA
ENST00000681633.1:n.5518_5520delinsCAA
ENST00000681926.1:c.1081_1083delinsCAA	ENSP00000505850.1:n.1081_1083delinsCAA
ENST00000265113.8:c.1081_1083delinsCAA	ENSP00000265113.4:n.1081_1083delinsCAA
ENST00000381918.3:c.1081_1083delinsCAA	ENSP00000371343.3:n.1081_1083delinsCAA
ENST00000612708.4:c.1081_1083delinsCAA	ENSP00000483657.1:n.1081_1083delinsCAA
ENST00000613445.4:c.1081_1083delinsCAA	ENSP00000477672.1:n.1081_1083delinsCAA
NM_001166695.2:c.1081_1083delinsCAA	NP_001160167.1:n.1081_1083delinsCAA
NM_001289939.1:c.1081_1083delinsCAA	NP_001276868.1:n.1081_1083delinsCAA
NM_001289940.1:c.1081_1083delinsCAA	NP_001276869.1:n.1081_1083delinsCAA
NM_004172.4:c.1081_1083delinsCAA	NP_004163.3:n.1081_1083delinsCAA
XM_005248342.1:c.1081_1083delinsCAA	XP_005248399.1:n.1081_1083delinsCAA
XM_011514084.1:c.1081_1083delinsCAA	XP_011512386.1:n.1081_1083delinsCAA
XM_005248342.3:c.1081_1083delinsCAA	XP_005248399.1:n.1081_1083delinsCAA
XM_011514084.2:c.1081_1083delinsCAA	XP_011512386.1:n.1081_1083delinsCAA
XM_024446181.1:c.1081_1083delinsCAA	XP_024301949.1:n.1081_1083delinsCAA
XM_024446182.1:c.1081_1083delinsCAA	XP_024301950.1:n.1081_1083delinsCAA
NM_004172.5:c.1081_1083delinsCAA MANE Select	NP_004163.3:n.1081_1083delinsCAA
NM_001166695.3:c.1081_1083delinsCAA	NP_001160167.1:n.1081_1083delinsCAA
NM_001289939.2:c.1081_1083delinsCAA	NP_001276868.1:n.1081_1083delinsCAA
NM_001289940.2:c.1081_1083delinsCAA	NP_001276869.1:n.1081_1083delinsCAA

HGVS	Amino-acid Change
ENST00000265113.9:c.1081_1083delinsCAA MANE Select	ENSP00000265113.4:n.1081_1083delinsCAA
ENST00000381918.4:c.1081_1083delinsCAA	ENSP00000371343.4:n.1081_1083delinsCAA
ENST00000612708.5:c.1081_1083delinsCAA	ENSP00000483657.1:n.1081_1083delinsCAA
ENST00000613445.5:c.1081_1083delinsCAA	ENSP00000477672.1:n.1081_1083delinsCAA
ENST00000624112.2:n.5703_5705delinsCAA
ENST00000679784.1:c.2622_2624delinsCAA	ENSP00000506030.1:n.2622_2624delinsCAA
ENST00000679852.1:c.1520_1522delinsCAA
ENST00000679958.1:c.1203_1205delinsCAA	ENSP00000505246.1:n.1203_1205delinsCAA
ENST00000679983.1:c.1081_1083delinsCAA	ENSP00000505238.1:n.1081_1083delinsCAA
ENST00000679992.1:c.1081_1083delinsCAA	ENSP00000506585.1:n.1081_1083delinsCAA
ENST00000680048.1:c.3203_3205delinsCAA	ENSP00000505296.1:n.3203_3205delinsCAA
ENST00000680125.1:c.1081_1083delinsCAA	ENSP00000506424.1:n.1081_1083delinsCAA
ENST00000680232.1:c.1081_1083delinsCAA	ENSP00000506207.1:n.1081_1083delinsCAA
ENST00000680318.1:c.1081_1083delinsCAA	ENSP00000505057.1:n.1081_1083delinsCAA
ENST00000680568.1:n.1938_1940delinsCAA
ENST00000680655.1:c.2422_2424delinsCAA	ENSP00000506436.1:n.2422_2424delinsCAA
ENST00000680876.1:n.5891_5893delinsCAA
ENST00000680878.1:n.5756_5758delinsCAA
ENST00000681633.1:n.5518_5520delinsCAA
ENST00000681926.1:c.1081_1083delinsCAA	ENSP00000505850.1:n.1081_1083delinsCAA
ENST00000265113.8:c.1081_1083delinsCAA	ENSP00000265113.4:n.1081_1083delinsCAA
ENST00000381918.3:c.1081_1083delinsCAA	ENSP00000371343.3:n.1081_1083delinsCAA
ENST00000612708.4:c.1081_1083delinsCAA	ENSP00000483657.1:n.1081_1083delinsCAA
ENST00000613445.4:c.1081_1083delinsCAA	ENSP00000477672.1:n.1081_1083delinsCAA
NM_001166695.2:c.1081_1083delinsCAA	NP_001160167.1:n.1081_1083delinsCAA
NM_001289939.1:c.1081_1083delinsCAA	NP_001276868.1:n.1081_1083delinsCAA
NM_001289940.1:c.1081_1083delinsCAA	NP_001276869.1:n.1081_1083delinsCAA
NM_004172.4:c.1081_1083delinsCAA	NP_004163.3:n.1081_1083delinsCAA
XM_005248342.1:c.1081_1083delinsCAA	XP_005248399.1:n.1081_1083delinsCAA
XM_011514084.1:c.1081_1083delinsCAA	XP_011512386.1:n.1081_1083delinsCAA
XM_005248342.3:c.1081_1083delinsCAA	XP_005248399.1:n.1081_1083delinsCAA
XM_011514084.2:c.1081_1083delinsCAA	XP_011512386.1:n.1081_1083delinsCAA
XM_024446181.1:c.1081_1083delinsCAA	XP_024301949.1:n.1081_1083delinsCAA
XM_024446182.1:c.1081_1083delinsCAA	XP_024301950.1:n.1081_1083delinsCAA
NM_004172.5:c.1081_1083delinsCAA MANE Select	NP_004163.3:n.1081_1083delinsCAA
NM_001166695.3:c.1081_1083delinsCAA	NP_001160167.1:n.1081_1083delinsCAA
NM_001289939.2:c.1081_1083delinsCAA	NP_001276868.1:n.1081_1083delinsCAA
NM_001289940.2:c.1081_1083delinsCAA	NP_001276869.1:n.1081_1083delinsCAA