Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229183_48229186del , CM000677.2:g.48229183_48229186del	GRCh38
NC_000015.9:g.48521380_48521383del , CM000677.1:g.48521380_48521383del	GRCh37
NC_000015.8:g.46308672_46308675del	NCBI36
NG_021301.1:g.27883_27886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.725-6_725-3del	ENSP00000508901.1:n.725-6_725-3del
ENST00000380993.8:c.725-6_725-3del MANE Select	ENSP00000370381.3:n.725-6_725-3del
ENST00000646012.1:c.863-6_863-3del	ENSP00000495813.1:n.863-6_863-3del
ENST00000647232.1:c.725-6_725-3del	ENSP00000493875.1:n.725-6_725-3del
ENST00000647546.1:c.725-6_725-3del	ENSP00000495332.1:n.725-6_725-3del
ENST00000330289.10:c.725-6_725-3del	ENSP00000331550.6:n.725-6_725-3del
ENST00000380993.7:c.725-6_725-3del	ENSP00000370381.3:n.725-6_725-3del
ENST00000396577.7:c.725-6_725-3del	ENSP00000379822.3:n.725-6_725-3del
ENST00000558252.5:n.4848-6_4848-3del
ENST00000558405.5:c.725-6_725-3del	ENSP00000453409.1:n.725-6_725-3del
ENST00000559641.5:c.164-6_164-3del	ENSP00000453230.1:n.164-6_164-3del
ENST00000559723.2:n.98-6_98-3del
ENST00000560692.5:n.4858_4861del
ENST00000561127.5:c.164-6_164-3del	ENSP00000453602.2:n.164-6_164-3del
NM_000338.2:c.725-6_725-3del	NP_000329.2:n.725-6_725-3del
NM_001184832.1:c.725-6_725-3del	NP_001171761.1:n.725-6_725-3del
XM_005254605.1:c.821-6_821-3del	XP_005254662.1:n.821-6_821-3del
XM_005254606.1:c.725-6_725-3del	XP_005254663.1:n.725-6_725-3del
XM_006720656.1:c.821-6_821-3del	XP_006720719.1:n.821-6_821-3del
XR_931896.1:n.1037-6_1037-3del
XR_932203.1:n.229+770_229+773del
XR_932204.1:n.222+770_222+773del
XM_005254606.2:c.725-6_725-3del	XP_005254663.1:n.725-6_725-3del
XR_001751524.2:n.230+770_230+773del
XR_001751525.1:n.230+770_230+773del
XR_002957762.1:n.230+770_230+773del
XR_932204.3:n.224+770_224+773del
NM_000338.3:c.725-6_725-3del MANE Select	NP_000329.2:n.725-6_725-3del
NM_001184832.2:c.725-6_725-3del	NP_001171761.1:n.725-6_725-3del
NM_001384136.1:c.725-6_725-3del	NP_001371065.1:n.725-6_725-3del