Canonical Allele Identifier: CA10586366

Gene: KY EPHB1 CEP63

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.134608668del , CM000665.2:g.134608668del	GRCh38
NC_000003.11:g.134327510del , CM000665.1:g.134327510del	GRCh37
NC_000003.10:g.135810200del	NCBI36
NG_054713.1:g.52386del

Transcript Alleles

HGVS	Amino-acid Change
NM_178554.6:c.1071del (KY) MANE Select	NP_848649.3:p.Thr358LeufsTer3
ENST00000423778.7:c.1071del (KY) MANE Select	ENSP00000397598.2:p.Thr358LeufsTer3
NM_001350859.1:c.1023del (KY)	NP_001337788.1:p.Thr342LeufsTer3
NM_001350859.2:c.1023del (KY)	NP_001337788.1:p.Thr342LeufsTer3
NM_001350860.1:c.945del (KY)	NP_001337789.1:p.Thr316LeufsTer3
NM_001350860.2:c.945del (KY)	NP_001337789.1:p.Thr316LeufsTer3
NM_001366276.1:c.1008del (KY)	NP_001353205.1:p.Thr337LeufsTer3
NM_001366277.1:c.1071del (KY)	NP_001353206.1:p.Thr358LeufsTer3
NM_001366277.2:c.1071del (KY)	NP_001353206.1:p.Thr358LeufsTer3
NM_178554.4:c.1071del (KY)	NP_848649.3:p.Thr358LeufsTer3
NM_178554.5:c.1071del (KY)	NP_848649.3:p.Thr358LeufsTer3
ENST00000423778.6:c.1071del (KY)	ENSP00000397598.2:p.Thr358LeufsTer3
ENST00000467708.2:n.107-6516del (EPHB1)
ENST00000472904.5:n.162-6516del (EPHB1)
ENST00000503669.1:c.899+1527del (KY)	ENSP00000426777.1:n.899+1527del
ENST00000506319.5:n.2376del (KY)
ENST00000508956.5:c.1008del (KY)	ENSP00000421297.1:p.Thr337LeufsTer3
XM_005247417.2:c.1194del (KY)	XP_005247474.1:p.Thr399LeufsTer3
XM_005247418.2:c.1185del (KY)	XP_005247475.1:p.Thr396LeufsTer3
XM_006713612.2:c.1131del (KY)	XP_006713675.1:p.Thr378LeufsTer3
XM_006713612.3:c.1131del (KY)	XP_006713675.1:p.Thr378LeufsTer3
XM_011512747.1:c.771del (KY)	XP_011511049.1:p.Thr258LeufsTer3
XM_017006287.1:c.1263del (KY)	XP_016861776.1:p.Thr422LeufsTer3
XM_017006288.1:c.1209del (KY)	XP_016861777.1:p.Thr404LeufsTer3
XM_017006290.1:c.1146del (KY)	XP_016861779.1:p.Thr383LeufsTer3
XM_024453389.1:c.-407-6516del (EPHB1)	XP_024309157.1:n.-407-6516del
XM_024453390.1:c.-407-6516del (EPHB1)	XP_024309158.1:n.-407-6516del
XM_024453508.1:c.1131del (KY)	XP_024309276.1:p.Thr378LeufsTer3
XR_002959586.1:n.1673-6516del (CEP63)
XR_002959589.1:n.1568-6516del (CEP63)
XR_241572.2:n.285-6516del
XR_427411.2:n.285-6516del
XR_924521.1:n.285-6516del