Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1342745del , CM000678.2:g.1342745del	GRCh38
NC_000016.9:g.1392746del , CM000678.1:g.1392746del	GRCh37
NC_000016.8:g.1332747del	NCBI36
NG_033974.1:g.14141del
NG_033974.2:g.14141del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561793.2:c.361del
ENST00000564213.2:c.1092del	ENSP00000518583.1:p.Arg365AspfsTer?
ENST00000565665.6:n.1465del
ENST00000567203.2:n.1207del
ENST00000711102.1:c.1092del	ENSP00000518580.1:p.Arg365AspfsTer?
ENST00000711103.1:c.1092del	ENSP00000518581.1:p.Arg365AspfsTer?
ENST00000711104.1:c.1143del	ENSP00000518582.1:p.Arg382AspfsTer?
ENST00000711105.1:c.1092del	ENSP00000518584.1:p.Arg365AspfsTer?
ENST00000711111.1:n.1208del
ENST00000426824.8:c.1092del MANE Select	ENSP00000407242.4:p.Arg365AspfsTer?
ENST00000324385.9:c.1197del	ENSP00000324510.5:p.Arg400AspfsTer?
ENST00000397488.6:c.1143del	ENSP00000380625.2:p.Arg382AspfsTer?
ENST00000421665.6:c.984del	ENSP00000409533.2:p.Arg329AspfsTer?
ENST00000426824.7:c.1092del	ENSP00000407242.3:p.Arg365AspfsTer?
ENST00000562208.5:c.1023del	ENSP00000458134.1:p.Arg342AspfsTer?
ENST00000568887.5:c.1008del	ENSP00000457644.1:p.Arg337AspfsTer?
ENST00000628027.2:c.1143del	ENSP00000487275.1:p.Arg382AspfsTer?
NM_001199096.1:c.984del	NP_001186025.1:p.Arg329AspfsTer?
NM_001199097.1:c.1092del	NP_001186026.1:p.Arg365AspfsTer?
NM_001199098.1:c.1023del	NP_001186027.1:p.Arg342AspfsTer?
NM_001199099.1:c.1008del	NP_001186028.1:p.Arg337AspfsTer?
NM_001286464.1:c.1143del	NP_001273393.1:p.Arg382AspfsTer?
NM_003933.4:c.1197del	NP_003924.2:p.Arg400AspfsTer?
XM_011522728.1:c.1248del	XP_011521030.1:p.Arg417AspfsTer?
XM_011522729.1:c.1248del	XP_011521031.1:p.Arg417AspfsTer?
XM_011522730.1:c.1248del	XP_011521032.1:p.Arg417AspfsTer?
XM_011522730.2:c.1248del	XP_011521032.1:p.Arg417AspfsTer?
NM_001199097.2:c.1092del MANE Select	NP_001186026.1:p.Arg365AspfsTer?
NM_001199098.2:c.1023del	NP_001186027.1:p.Arg342AspfsTer?
NM_001199099.2:c.1008del	NP_001186028.1:p.Arg337AspfsTer?
NM_001286464.2:c.1143del	NP_001273393.2:p.Arg382AspfsTer?
NM_001199096.2:c.984del	NP_001186025.1:p.Arg329AspfsTer?
NM_003933.5:c.1197del	NP_003924.2:p.Arg400AspfsTer?