Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022794_39022802del , CM000664.2:g.39022794_39022802del	GRCh38
NC_000002.11:g.39249935_39249943del , CM000664.1:g.39249935_39249943del	GRCh37
NC_000002.10:g.39103439_39103447del	NCBI36
NG_007530.1:g.102662_102670del , LRG_754:g.102662_102670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1506_1514del
ENST00000685279.1:c.393_401del	ENSP00000509424.1:p.Ile131_Gln134delinsMet
ENST00000688043.1:n.1847_1855del
ENST00000689668.1:n.1633_1641del
ENST00000690876.1:c.1515_1523del	ENSP00000508955.1:p.Ile505_Gln508delinsMet
ENST00000691229.1:c.1515_1523del	ENSP00000510437.1:p.Ile505_Gln508delinsMet
ENST00000692089.1:c.1515_1523del	ENSP00000508626.1:p.Ile505_Gln508delinsMet
ENST00000692620.1:c.393_401del	ENSP00000509311.1:p.Ile131_Gln134delinsMet
ENST00000402219.8:c.1626_1634del MANE Select	ENSP00000384675.2:p.Ile542_Gln545delinsMet
ENST00000395038.6:c.1626_1634del	ENSP00000378479.2:p.Ile542_Gln545delinsMet
ENST00000402219.6:c.1626_1634del	ENSP00000384675.2:p.Ile542_Gln545delinsMet
ENST00000426016.5:c.1626_1634del	ENSP00000387784.1:p.Ile542_Gln545delinsMet
NM_005633.3:c.1626_1634del , LRG_754t1:c.1626_1634del	NP_005624.2:p.Ile542_Gln545delinsMet
XM_005264515.3:c.1626_1634del	XP_005264572.1:p.Ile542_Gln545delinsMet
XM_011533060.1:c.1719_1727del	XP_011531362.1:p.Ile573_Gln576delinsMet
XM_011533061.1:c.1719_1727del	XP_011531363.1:p.Ile573_Gln576delinsMet
XM_011533062.1:c.1605_1613del	XP_011531364.1:p.Ile535_Gln538delinsMet
XM_011533063.1:c.1602_1610del	XP_011531365.1:p.Ile534_Gln537delinsMet
XM_011533064.1:c.1455_1463del	XP_011531366.1:p.Ile485_Gln488delinsMet
XM_011533065.1:c.1719_1727del	XP_011531367.1:p.Ile573_Gln576delinsMet
XM_011533066.1:c.561_569del	XP_011531368.1:p.Ile187_Gln190delinsMet
XM_005264515.4:c.1626_1634del	XP_005264572.1:p.Ile542_Gln545delinsMet
XM_011533062.2:c.1605_1613del	XP_011531364.1:p.Ile535_Gln538delinsMet
XM_011533064.2:c.1455_1463del	XP_011531366.1:p.Ile485_Gln488delinsMet
NM_001382394.1:c.1605_1613del	NP_001369323.1:p.Ile535_Gln538delinsMet
NM_001382395.1:c.1626_1634del	NP_001369324.1:p.Ile542_Gln545delinsMet
NM_005633.4:c.1626_1634del MANE Select	NP_005624.2:p.Ile542_Gln545delinsMet