Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075603_65075604delinsAG , CM000676.2:g.65075603_65075604delinsAG	GRCh38
NC_000014.8:g.65542321_65542322delinsAG , CM000676.1:g.65542321_65542322delinsAG	GRCh37
NC_000014.7:g.64612074_64612075delinsAG	NCBI36
NG_029830.1:g.31906_31907delinsCT , LRG_530:g.31906_31907delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.872_873delinsCT	ENSP00000452206.2:n.872_873delinsCT
ENST00000556979.6:c.1808_1809delinsCT	ENSP00000452378.1:n.1808_1809delinsCT
ENST00000358664.9:c.872_873delinsCT MANE Select	ENSP00000351490.4:n.872_873delinsCT
ENST00000651648.1:c.145-5235_145-5234delinsCT	ENSP00000498863.1:n.145-5235_145-5234delinsCT
ENST00000284165.10:c.2199_2200delinsCT	ENSP00000284165.6:n.2199_2200delinsCT
ENST00000341653.6:c.171+18104_171+18105delinsCT	ENSP00000342482.2:n.171+18104_171+18105delinsCT
ENST00000358402.8:c.872_873delinsCT	ENSP00000351175.4:n.872_873delinsCT
ENST00000358664.8:c.872_873delinsCT	ENSP00000351490.4:n.872_873delinsCT
ENST00000394606.6:c.1128_1129delinsCT	ENSP00000378104.2:n.1128_1129delinsCT
ENST00000555932.5:c.847_848delinsCT	ENSP00000450763.1:n.847_848delinsCT
ENST00000618858.4:c.1144_1145delinsCT	ENSP00000480127.1:n.1144_1145delinsCT
NM_001271069.1:c.144+18104_144+18105delinsCT	NP_001257998.1:n.144+18104_144+18105delinsCT
NM_002382.4:c.872_873delinsCT	NP_002373.3:n.872_873delinsCT
NM_145112.2:c.872_873delinsCT	NP_660087.1:n.872_873delinsCT
NM_145113.2:c.1144_1145delinsCT	NP_660088.1:n.1144_1145delinsCT
NM_197957.3:c.171+18104_171+18105delinsCT	NP_932061.1:n.171+18104_171+18105delinsCT
NR_073137.1:n.1479_1480delinsCT
XR_429315.2:n.1642_1643delinsCT
NM_001320415.1:c.872_873delinsCT	NP_001307344.1:n.872_873delinsCT
XM_017021312.2:c.872_873delinsCT	XP_016876801.1:n.872_873delinsCT
XM_017021313.1:c.872_873delinsCT	XP_016876802.1:n.872_873delinsCT
XR_001750326.2:n.1700_1701delinsCT
XR_001750327.2:n.1619_1620delinsCT
XR_002957553.1:n.2133_2134delinsCT
XR_943450.3:n.1723_1724delinsCT
XR_943451.3:n.1739_1740delinsCT
XR_943452.3:n.1684_1685delinsCT
NM_001320415.2:c.872_873delinsCT	NP_001307344.1:n.872_873delinsCT
NM_002382.5:c.872_873delinsCT MANE Select	NP_002373.3:n.872_873delinsCT
NM_145112.3:c.872_873delinsCT	NP_660087.1:n.872_873delinsCT
NM_145113.3:c.1144_1145delinsCT	NP_660088.1:n.1144_1145delinsCT
NM_001271069.2:c.144+18104_144+18105delinsCT	NP_001257998.1:n.144+18104_144+18105delinsCT
NM_197957.4:c.171+18104_171+18105delinsCT	NP_932061.1:n.171+18104_171+18105delinsCT

HGVS	Amino-acid Change
ENST00000556892.6:c.872_873delinsCT	ENSP00000452206.2:n.872_873delinsCT
ENST00000556979.6:c.1808_1809delinsCT	ENSP00000452378.1:n.1808_1809delinsCT
ENST00000358664.9:c.872_873delinsCT MANE Select	ENSP00000351490.4:n.872_873delinsCT
ENST00000651648.1:c.145-5235_145-5234delinsCT	ENSP00000498863.1:n.145-5235_145-5234delinsCT
ENST00000284165.10:c.2199_2200delinsCT	ENSP00000284165.6:n.2199_2200delinsCT
ENST00000341653.6:c.171+18104_171+18105delinsCT	ENSP00000342482.2:n.171+18104_171+18105delinsCT
ENST00000358402.8:c.872_873delinsCT	ENSP00000351175.4:n.872_873delinsCT
ENST00000358664.8:c.872_873delinsCT	ENSP00000351490.4:n.872_873delinsCT
ENST00000394606.6:c.1128_1129delinsCT	ENSP00000378104.2:n.1128_1129delinsCT
ENST00000555932.5:c.847_848delinsCT	ENSP00000450763.1:n.847_848delinsCT
ENST00000618858.4:c.1144_1145delinsCT	ENSP00000480127.1:n.1144_1145delinsCT
NM_001271069.1:c.144+18104_144+18105delinsCT	NP_001257998.1:n.144+18104_144+18105delinsCT
NM_002382.4:c.872_873delinsCT	NP_002373.3:n.872_873delinsCT
NM_145112.2:c.872_873delinsCT	NP_660087.1:n.872_873delinsCT
NM_145113.2:c.1144_1145delinsCT	NP_660088.1:n.1144_1145delinsCT
NM_197957.3:c.171+18104_171+18105delinsCT	NP_932061.1:n.171+18104_171+18105delinsCT
NR_073137.1:n.1479_1480delinsCT
XR_429315.2:n.1642_1643delinsCT
NM_001320415.1:c.872_873delinsCT	NP_001307344.1:n.872_873delinsCT
XM_017021312.2:c.872_873delinsCT	XP_016876801.1:n.872_873delinsCT
XM_017021313.1:c.872_873delinsCT	XP_016876802.1:n.872_873delinsCT
XR_001750326.2:n.1700_1701delinsCT
XR_001750327.2:n.1619_1620delinsCT
XR_002957553.1:n.2133_2134delinsCT
XR_943450.3:n.1723_1724delinsCT
XR_943451.3:n.1739_1740delinsCT
XR_943452.3:n.1684_1685delinsCT
NM_001320415.2:c.872_873delinsCT	NP_001307344.1:n.872_873delinsCT
NM_002382.5:c.872_873delinsCT MANE Select	NP_002373.3:n.872_873delinsCT
NM_145112.3:c.872_873delinsCT	NP_660087.1:n.872_873delinsCT
NM_145113.3:c.1144_1145delinsCT	NP_660088.1:n.1144_1145delinsCT
NM_001271069.2:c.144+18104_144+18105delinsCT	NP_001257998.1:n.144+18104_144+18105delinsCT
NM_197957.4:c.171+18104_171+18105delinsCT	NP_932061.1:n.171+18104_171+18105delinsCT