Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205357_39205361del , CM000666.2:g.39205357_39205361del	GRCh38
NC_000004.11:g.39206977_39206981del , CM000666.1:g.39206977_39206981del	GRCh37
NC_000004.10:g.38883372_38883376del	NCBI36
NG_031813.1:g.27954_27958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.716+91_716+95del MANE Select	ENSP00000382717.3:n.716+91_716+95del
ENST00000399820.7:c.716+91_716+95del	ENSP00000382717.3:n.716+91_716+95del
ENST00000503697.5:c.184+91_184+95del	ENSP00000423706.1:n.184+91_184+95del
ENST00000505055.5:c.297+91_297+95del	ENSP00000425949.1:n.297+91_297+95del
ENST00000506503.1:c.716+91_716+95del	ENSP00000423491.1:n.716+91_716+95del
ENST00000506869.5:c.297+91_297+95del	ENSP00000424319.1:n.297+91_297+95del
ENST00000511729.5:n.40+22794_40+22798del
ENST00000512448.1:n.310+91_310+95del
NM_025132.3:c.716+91_716+95del	NP_079408.3:n.716+91_716+95del
XM_011513724.1:c.716+91_716+95del	XP_011512026.1:n.716+91_716+95del
XM_011513725.1:c.650+91_650+95del	XP_011512027.1:n.650+91_650+95del
XM_011513726.1:c.236+91_236+95del	XP_011512028.1:n.236+91_236+95del
XM_011513727.1:c.236+91_236+95del	XP_011512029.1:n.236+91_236+95del
XM_011513728.1:c.236+91_236+95del	XP_011512030.1:n.236+91_236+95del
XM_011513729.1:c.716+91_716+95del	XP_011512031.1:n.716+91_716+95del
XR_925155.1:n.780+91_780+95del
NM_001317924.1:c.236+91_236+95del	NP_001304853.1:n.236+91_236+95del
XM_011513725.2:c.650+91_650+95del	XP_011512027.1:n.650+91_650+95del
XM_011513726.3:c.236+91_236+95del	XP_011512028.1:n.236+91_236+95del
XM_017008501.1:c.236+91_236+95del	XP_016863990.1:n.236+91_236+95del
XR_001741306.1:n.780+91_780+95del
XR_001741307.1:n.780+91_780+95del
XR_001741308.1:n.780+91_780+95del
XR_001741309.1:n.780+91_780+95del
XR_001741310.1:n.780+91_780+95del
XR_001741311.2:n.629+91_629+95del
XR_001741312.1:n.780+91_780+95del
NM_025132.4:c.716+91_716+95del MANE Select	NP_079408.3:n.716+91_716+95del
NM_001317924.2:c.236+91_236+95del	NP_001304853.1:n.236+91_236+95del