Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205354_39205359del , CM000666.2:g.39205354_39205359del	GRCh38
NC_000004.11:g.39206974_39206979del , CM000666.1:g.39206974_39206979del	GRCh37
NC_000004.10:g.38883369_38883374del	NCBI36
NG_031813.1:g.27951_27956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.716+88_716+93del MANE Select	ENSP00000382717.3:n.716+88_716+93del
ENST00000399820.7:c.716+88_716+93del	ENSP00000382717.3:n.716+88_716+93del
ENST00000503697.5:c.184+88_184+93del	ENSP00000423706.1:n.184+88_184+93del
ENST00000505055.5:c.297+88_297+93del	ENSP00000425949.1:n.297+88_297+93del
ENST00000506503.1:c.716+88_716+93del	ENSP00000423491.1:n.716+88_716+93del
ENST00000506869.5:c.297+88_297+93del	ENSP00000424319.1:n.297+88_297+93del
ENST00000511729.5:n.40+22791_40+22796del
ENST00000512448.1:n.310+88_310+93del
NM_025132.3:c.716+88_716+93del	NP_079408.3:n.716+88_716+93del
XM_011513724.1:c.716+88_716+93del	XP_011512026.1:n.716+88_716+93del
XM_011513725.1:c.650+88_650+93del	XP_011512027.1:n.650+88_650+93del
XM_011513726.1:c.236+88_236+93del	XP_011512028.1:n.236+88_236+93del
XM_011513727.1:c.236+88_236+93del	XP_011512029.1:n.236+88_236+93del
XM_011513728.1:c.236+88_236+93del	XP_011512030.1:n.236+88_236+93del
XM_011513729.1:c.716+88_716+93del	XP_011512031.1:n.716+88_716+93del
XR_925155.1:n.780+88_780+93del
NM_001317924.1:c.236+88_236+93del	NP_001304853.1:n.236+88_236+93del
XM_011513725.2:c.650+88_650+93del	XP_011512027.1:n.650+88_650+93del
XM_011513726.3:c.236+88_236+93del	XP_011512028.1:n.236+88_236+93del
XM_017008501.1:c.236+88_236+93del	XP_016863990.1:n.236+88_236+93del
XR_001741306.1:n.780+88_780+93del
XR_001741307.1:n.780+88_780+93del
XR_001741308.1:n.780+88_780+93del
XR_001741309.1:n.780+88_780+93del
XR_001741310.1:n.780+88_780+93del
XR_001741311.2:n.629+88_629+93del
XR_001741312.1:n.780+88_780+93del
NM_025132.4:c.716+88_716+93del MANE Select	NP_079408.3:n.716+88_716+93del
NM_001317924.2:c.236+88_236+93del	NP_001304853.1:n.236+88_236+93del