Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205864_39205869del , CM000666.2:g.39205864_39205869del	GRCh38
NC_000004.11:g.39207484_39207489del , CM000666.1:g.39207484_39207489del	GRCh37
NC_000004.10:g.38883879_38883884del	NCBI36
NG_031813.1:g.28461_28466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.890+128_890+133del MANE Select	ENSP00000382717.3:n.890+128_890+133del
ENST00000399820.7:c.890+128_890+133del	ENSP00000382717.3:n.890+128_890+133del
ENST00000503697.5:c.358+128_358+133del	ENSP00000423706.1:n.358+128_358+133del
ENST00000506503.1:c.890+128_890+133del	ENSP00000423491.1:n.890+128_890+133del
ENST00000506869.5:c.471+128_471+133del	ENSP00000424319.1:n.471+128_471+133del
ENST00000511729.5:n.41-22694_41-22689del
ENST00000512448.1:n.612_617del
NM_025132.3:c.890+128_890+133del	NP_079408.3:n.890+128_890+133del
XM_011513724.1:c.890+128_890+133del	XP_011512026.1:n.890+128_890+133del
XM_011513725.1:c.824+128_824+133del	XP_011512027.1:n.824+128_824+133del
XM_011513726.1:c.410+128_410+133del	XP_011512028.1:n.410+128_410+133del
XM_011513727.1:c.410+128_410+133del	XP_011512029.1:n.410+128_410+133del
XM_011513728.1:c.410+128_410+133del	XP_011512030.1:n.410+128_410+133del
XM_011513729.1:c.890+128_890+133del	XP_011512031.1:n.890+128_890+133del
XR_925155.1:n.954+128_954+133del
NM_001317924.1:c.410+128_410+133del	NP_001304853.1:n.410+128_410+133del
XM_011513725.2:c.824+128_824+133del	XP_011512027.1:n.824+128_824+133del
XM_011513726.3:c.410+128_410+133del	XP_011512028.1:n.410+128_410+133del
XM_017008501.1:c.410+128_410+133del	XP_016863990.1:n.410+128_410+133del
XR_001741306.1:n.954+128_954+133del
XR_001741307.1:n.954+128_954+133del
XR_001741308.1:n.954+128_954+133del
XR_001741309.1:n.954+128_954+133del
XR_001741310.1:n.954+128_954+133del
XR_001741311.2:n.803+128_803+133del
XR_001741312.1:n.954+128_954+133del
NM_025132.4:c.890+128_890+133del MANE Select	NP_079408.3:n.890+128_890+133del
NM_001317924.2:c.410+128_410+133del	NP_001304853.1:n.410+128_410+133del