Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030661_154030666del , CM000685.2:g.154030661_154030666del	GRCh38
NC_000023.10:g.153296112_153296117del , CM000685.1:g.153296112_153296117del	GRCh37
NC_000023.9:g.152949306_152949311del	NCBI36
NG_007107.2:g.111468_111473del
NG_007107.3:g.111444_111449del

Transcript Alleles

HGVS	Amino-acid Change
NM_001110792.2:c.1204_1209del MANE Select	NP_001104262.1:p.Pro402_Pro403del
ENST00000453960.7:c.1204_1209del MANE Select	ENSP00000395535.2:p.Pro402_Pro403del
NM_004992.4:c.1168_1173del MANE Plus Clinical	NP_004983.1:p.Pro390_Pro391del
ENST00000303391.11:c.1168_1173del MANE Plus Clinical	ENSP00000301948.6:p.Pro390_Pro391del
NM_001110792.1:c.1204_1209del	NP_001104262.1:p.Pro402_Pro403del
NM_001316337.1:c.889_894del	NP_001303266.1:p.Pro297_Pro298del
NM_001316337.2:c.889_894del	NP_001303266.1:p.Pro297_Pro298del
NM_001369391.2:c.889_894del	NP_001356320.1:p.Pro297_Pro298del
NM_001369392.2:c.889_894del	NP_001356321.1:p.Pro297_Pro298del
NM_001369393.2:c.889_894del	NP_001356322.1:p.Pro297_Pro298del
NM_001369394.1:c.889_894del	NP_001356323.1:p.Pro297_Pro298del
NM_001369394.2:c.889_894del	NP_001356323.1:p.Pro297_Pro298del
NM_001386137.1:c.499_504del	NP_001373066.1:p.Pro167_Pro168del
NM_001386138.1:c.499_504del	NP_001373067.1:p.Pro167_Pro168del
NM_001386139.1:c.499_504del	NP_001373068.1:p.Pro167_Pro168del
NM_004992.3:c.1168_1173del	NP_004983.1:p.Pro390_Pro391del
ENST00000303391.10:c.1168_1173del	ENSP00000301948.6:p.Pro390_Pro391del
ENST00000407218.5:c.540_545del	ENSP00000384865.2:n.540_545del
ENST00000453960.6:c.1204_1209del	ENSP00000395535.2:p.Pro402_Pro403del
ENST00000619732.4:c.1168_1173del	ENSP00000480973.1:p.Pro390_Pro391del
ENST00000628176.2:c.540_545del	ENSP00000486978.1:n.540_545del
XM_005274681.3:c.1168_1173del	XP_005274738.1:p.Pro390_Pro391del
XM_005274682.3:c.889_894del	XP_005274739.1:p.Pro297_Pro298del
XM_005274683.3:c.889_894del	XP_005274740.1:p.Pro297_Pro298del
XM_006724819.2:c.499_504del	XP_006724882.1:p.Pro167_Pro168del
XM_006724819.3:c.499_504del	XP_006724882.1:p.Pro167_Pro168del
XM_011531166.1:c.889_894del	XP_011529468.1:p.Pro297_Pro298del
XM_011531166.2:c.889_894del	XP_011529468.1:p.Pro297_Pro298del
XM_024452383.1:c.889_894del	XP_024308151.1:p.Pro297_Pro298del
XM_024452384.1:c.889_894del	XP_024308152.1:p.Pro297_Pro298del