Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31723900del , CM000668.2:g.31723900del	GRCh38
NC_000006.11:g.31691677del , CM000668.1:g.31691677del	GRCh37
NC_000006.10:g.31799656del	NCBI36
NG_029044.1:g.5557del
NG_029044.2:g.5557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649779.1:c.323del MANE Select	ENSP00000497720.1:p.Cys108SerfsTer?
ENST00000375804.6:c.323del	ENSP00000364962.2:p.Cys108SerfsTer?
ENST00000375805.6:c.323del	ENSP00000364963.2:p.Cys108SerfsTer?
ENST00000375806.2:c.323del	ENSP00000364964.2:p.Cys108SerfsTer?
ENST00000375809.7:c.323del	ENSP00000364967.3:p.Cys108SerfsTer?
ENST00000375810.8:c.323del	ENSP00000364968.4:p.Cys108SerfsTer?
ENST00000375814.7:c.323del	ENSP00000364972.3:p.Cys108SerfsTer?
ENST00000460663.5:n.530del
ENST00000466312.5:n.327del
ENST00000471545.1:n.323del
ENST00000480039.5:c.323del	ENSP00000419306.1:p.Cys108SerfsTer?
ENST00000485548.5:c.268+55del	ENSP00000420355.1:n.268+55del
NM_025260.3:c.323del	NP_079536.2:p.Cys108SerfsTer?
NM_138272.2:c.323del	NP_612116.1:p.Cys108SerfsTer?
NM_138273.2:c.323del	NP_612117.1:p.Cys108SerfsTer?
NM_138274.2:c.323del	NP_612118.1:p.Cys108SerfsTer?
NM_138275.2:c.323del	NP_612119.1:p.Cys108SerfsTer?
NM_138277.2:c.323del	NP_612121.1:p.Cys108SerfsTer?
XM_011514920.1:c.371del	XP_011513222.1:p.Cys124SerfsTer?
XM_011514921.1:c.371del	XP_011513223.1:p.Cys124SerfsTer?
XM_011514920.2:c.371del	XP_011513222.1:p.Cys124SerfsTer?
XM_011514921.2:c.371del	XP_011513223.1:p.Cys124SerfsTer?
XM_017011330.1:c.371del	XP_016866819.1:p.Cys124SerfsTer?
XM_017011331.1:c.323del	XP_016866820.1:p.Cys108SerfsTer?
XM_017011332.1:c.371del	XP_016866821.1:p.Cys124SerfsTer?
XM_017011333.1:c.371del	XP_016866822.1:p.Cys124SerfsTer?
NM_025260.4:c.323del	NP_079536.2:p.Cys108SerfsTer?
NM_138272.3:c.323del MANE Select	NP_612116.1:p.Cys108SerfsTer?
NM_138273.3:c.323del	NP_612117.1:p.Cys108SerfsTer?
NM_138274.3:c.323del	NP_612118.1:p.Cys108SerfsTer?
NM_138275.3:c.323del	NP_612119.1:p.Cys108SerfsTer?
NM_138277.3:c.323del	NP_612121.1:p.Cys108SerfsTer?