Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39205892_39205897del , CM000666.2:g.39205892_39205897del	GRCh38
NC_000004.11:g.39207512_39207517del , CM000666.1:g.39207512_39207517del	GRCh37
NC_000004.10:g.38883907_38883912del	NCBI36
NG_031813.1:g.28489_28494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399820.8:c.890+156_890+161del MANE Select	ENSP00000382717.3:n.890+156_890+161del
ENST00000399820.7:c.890+156_890+161del	ENSP00000382717.3:n.890+156_890+161del
ENST00000503697.5:c.358+156_358+161del	ENSP00000423706.1:n.358+156_358+161del
ENST00000506503.1:c.890+156_890+161del	ENSP00000423491.1:n.890+156_890+161del
ENST00000506869.5:c.471+156_471+161del	ENSP00000424319.1:n.471+156_471+161del
ENST00000511729.5:n.41-22666_41-22661del
ENST00000512448.1:n.640_645del
NM_025132.3:c.890+156_890+161del	NP_079408.3:n.890+156_890+161del
XM_011513724.1:c.890+156_890+161del	XP_011512026.1:n.890+156_890+161del
XM_011513725.1:c.824+156_824+161del	XP_011512027.1:n.824+156_824+161del
XM_011513726.1:c.410+156_410+161del	XP_011512028.1:n.410+156_410+161del
XM_011513727.1:c.410+156_410+161del	XP_011512029.1:n.410+156_410+161del
XM_011513728.1:c.410+156_410+161del	XP_011512030.1:n.410+156_410+161del
XM_011513729.1:c.890+156_890+161del	XP_011512031.1:n.890+156_890+161del
XR_925155.1:n.954+156_954+161del
NM_001317924.1:c.410+156_410+161del	NP_001304853.1:n.410+156_410+161del
XM_011513725.2:c.824+156_824+161del	XP_011512027.1:n.824+156_824+161del
XM_011513726.3:c.410+156_410+161del	XP_011512028.1:n.410+156_410+161del
XM_017008501.1:c.410+156_410+161del	XP_016863990.1:n.410+156_410+161del
XR_001741306.1:n.954+156_954+161del
XR_001741307.1:n.954+156_954+161del
XR_001741308.1:n.954+156_954+161del
XR_001741309.1:n.954+156_954+161del
XR_001741310.1:n.954+156_954+161del
XR_001741311.2:n.803+156_803+161del
XR_001741312.1:n.954+156_954+161del
NM_025132.4:c.890+156_890+161del MANE Select	NP_079408.3:n.890+156_890+161del
NM_001317924.2:c.410+156_410+161del	NP_001304853.1:n.410+156_410+161del