Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313003_27313008del , CM000664.2:g.27313003_27313008del	GRCh38
NC_000002.11:g.27535870_27535875del , CM000664.1:g.27535870_27535875del	GRCh37
NC_000002.10:g.27389374_27389379del	NCBI36
NG_008075.1:g.14561_14566del
NG_033055.1:g.260_265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.176_181del MANE Select	ENSP00000369383.1:p.Cys59_Gly60del
ENST00000233545.6:c.176_181del	ENSP00000233545.2:p.Cys59_Gly60del
ENST00000357186.10:c.19-232_19-227del	ENSP00000349713.6:n.19-232_19-227del
ENST00000380044.5:c.176_181del	ENSP00000369383.1:p.Cys59_Gly60del
ENST00000402310.5:c.176_181del	ENSP00000383955.1:p.Cys59_Gly60del
ENST00000402722.5:c.141_146del	ENSP00000386000.1:p.Trp48_Leu49del
ENST00000403262.6:c.176_181del	ENSP00000385671.1:p.Cys59_Gly60del
ENST00000405076.5:c.176_181del	ENSP00000385175.1:p.Cys59_Gly60del
ENST00000405983.5:c.221_226del	ENSP00000384586.1:p.Cys74_Gly75del
ENST00000415514.5:c.228-232_228-227del	ENSP00000388043.1:n.228-232_228-227del
ENST00000426513.6:c.141_146del	ENSP00000403824.2:p.Trp48_Leu49del
ENST00000428910.5:c.98_103del	ENSP00000405235.1:p.Cys33_Gly34del
ENST00000430991.5:c.106_111del
ENST00000616446.1:n.153_158del
ENST00000616707.1:n.384_389del
ENST00000617583.4:n.202_207del
ENST00000621183.4:n.232_237del
ENST00000621470.4:n.192_197del
ENST00000622003.4:n.349_354del
NM_002437.4:c.176_181del	NP_002428.1:p.Cys59_Gly60del
XM_005264326.2:c.176_181del	XP_005264383.1:p.Cys59_Gly60del
XM_005264327.2:c.17_22del	XP_005264384.1:p.Cys6_Gly7del
XM_006712021.2:c.128_133del	XP_006712084.1:p.Cys43_Gly44del
XM_005264326.4:c.176_181del	XP_005264383.1:p.Cys59_Gly60del
XM_006712021.3:c.128_133del	XP_006712084.1:p.Cys43_Gly44del
XM_017004150.1:c.158_163del	XP_016859639.1:p.Cys53_Gly54del
XM_017004151.1:c.128_133del	XP_016859640.1:p.Cys43_Gly44del
XM_017004152.1:c.17_22del	XP_016859641.1:p.Cys6_Gly7del
XM_024452913.1:c.128_133del	XP_024308681.1:p.Cys43_Gly44del
NM_002437.5:c.176_181del MANE Select	NP_002428.1:p.Cys59_Gly60del