Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65075598_65075601del , CM000676.2:g.65075598_65075601del	GRCh38
NC_000014.8:g.65542316_65542319del , CM000676.1:g.65542316_65542319del	GRCh37
NC_000014.7:g.64612069_64612072del	NCBI36
NG_029830.1:g.31910_31913del , LRG_530:g.31910_31913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.876_879del	ENSP00000452206.2:n.876_879del
ENST00000556979.6:c.1812_1815del	ENSP00000452378.1:n.1812_1815del
ENST00000358664.9:c.876_879del MANE Select	ENSP00000351490.4:n.876_879del
ENST00000651648.1:c.145-5231_145-5228del	ENSP00000498863.1:n.145-5231_145-5228del
ENST00000284165.10:c.2203_2206del	ENSP00000284165.6:n.2203_2206del
ENST00000341653.6:c.171+18108_171+18111del	ENSP00000342482.2:n.171+18108_171+18111del
ENST00000358402.8:c.876_879del	ENSP00000351175.4:n.876_879del
ENST00000358664.8:c.876_879del	ENSP00000351490.4:n.876_879del
ENST00000394606.6:c.1132_1135del	ENSP00000378104.2:n.1132_1135del
ENST00000555932.5:c.851_854del	ENSP00000450763.1:n.851_854del
ENST00000618858.4:c.1148_1151del	ENSP00000480127.1:n.1148_1151del
NM_001271069.1:c.144+18108_144+18111del	NP_001257998.1:n.144+18108_144+18111del
NM_002382.4:c.876_879del	NP_002373.3:n.876_879del
NM_145112.2:c.876_879del	NP_660087.1:n.876_879del
NM_145113.2:c.1148_1151del	NP_660088.1:n.1148_1151del
NM_197957.3:c.171+18108_171+18111del	NP_932061.1:n.171+18108_171+18111del
NR_073137.1:n.1483_1486del
XR_429315.2:n.1646_1649del
NM_001320415.1:c.876_879del	NP_001307344.1:n.876_879del
XM_017021312.2:c.876_879del	XP_016876801.1:n.876_879del
XM_017021313.1:c.876_879del	XP_016876802.1:n.876_879del
XR_001750326.2:n.1704_1707del
XR_001750327.2:n.1623_1626del
XR_002957553.1:n.2137_2140del
XR_943450.3:n.1727_1730del
XR_943451.3:n.1743_1746del
XR_943452.3:n.1688_1691del
NM_001320415.2:c.876_879del	NP_001307344.1:n.876_879del
NM_002382.5:c.876_879del MANE Select	NP_002373.3:n.876_879del
NM_145112.3:c.876_879del	NP_660087.1:n.876_879del
NM_145113.3:c.1148_1151del	NP_660088.1:n.1148_1151del
NM_001271069.2:c.144+18108_144+18111del	NP_001257998.1:n.144+18108_144+18111del
NM_197957.4:c.171+18108_171+18111del	NP_932061.1:n.171+18108_171+18111del

HGVS	Amino-acid Change
ENST00000556892.6:c.876_879del	ENSP00000452206.2:n.876_879del
ENST00000556979.6:c.1812_1815del	ENSP00000452378.1:n.1812_1815del
ENST00000358664.9:c.876_879del MANE Select	ENSP00000351490.4:n.876_879del
ENST00000651648.1:c.145-5231_145-5228del	ENSP00000498863.1:n.145-5231_145-5228del
ENST00000284165.10:c.2203_2206del	ENSP00000284165.6:n.2203_2206del
ENST00000341653.6:c.171+18108_171+18111del	ENSP00000342482.2:n.171+18108_171+18111del
ENST00000358402.8:c.876_879del	ENSP00000351175.4:n.876_879del
ENST00000358664.8:c.876_879del	ENSP00000351490.4:n.876_879del
ENST00000394606.6:c.1132_1135del	ENSP00000378104.2:n.1132_1135del
ENST00000555932.5:c.851_854del	ENSP00000450763.1:n.851_854del
ENST00000618858.4:c.1148_1151del	ENSP00000480127.1:n.1148_1151del
NM_001271069.1:c.144+18108_144+18111del	NP_001257998.1:n.144+18108_144+18111del
NM_002382.4:c.876_879del	NP_002373.3:n.876_879del
NM_145112.2:c.876_879del	NP_660087.1:n.876_879del
NM_145113.2:c.1148_1151del	NP_660088.1:n.1148_1151del
NM_197957.3:c.171+18108_171+18111del	NP_932061.1:n.171+18108_171+18111del
NR_073137.1:n.1483_1486del
XR_429315.2:n.1646_1649del
NM_001320415.1:c.876_879del	NP_001307344.1:n.876_879del
XM_017021312.2:c.876_879del	XP_016876801.1:n.876_879del
XM_017021313.1:c.876_879del	XP_016876802.1:n.876_879del
XR_001750326.2:n.1704_1707del
XR_001750327.2:n.1623_1626del
XR_002957553.1:n.2137_2140del
XR_943450.3:n.1727_1730del
XR_943451.3:n.1743_1746del
XR_943452.3:n.1688_1691del
NM_001320415.2:c.876_879del	NP_001307344.1:n.876_879del
NM_002382.5:c.876_879del MANE Select	NP_002373.3:n.876_879del
NM_145112.3:c.876_879del	NP_660087.1:n.876_879del
NM_145113.3:c.1148_1151del	NP_660088.1:n.1148_1151del
NM_001271069.2:c.144+18108_144+18111del	NP_001257998.1:n.144+18108_144+18111del
NM_197957.4:c.171+18108_171+18111del	NP_932061.1:n.171+18108_171+18111del