Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524676_43524680del , CM000668.2:g.43524676_43524680del	GRCh38
NC_000006.11:g.43492414_43492418del , CM000668.1:g.43492414_43492418del	GRCh37
NC_000006.10:g.43600392_43600396del	NCBI36
NG_028283.3:g.19975_19979del
NG_051658.1:g.56396_56400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3313-45_3313-41del (XPO5) MANE Select	ENSP00000265351.7:n.3313-45_3313-41del
ENST00000607635.2:c.922+3628_922+3632del (POLR1C)	ENSP00000496683.1:n.922+3628_922+3632del
ENST00000643341.1:c.922+3628_922+3632del (POLR1C)	ENSP00000496018.1:n.922+3628_922+3632del
ENST00000643799.1:c.17+3359_17+3363del (POLR1C)	ENSP00000494529.1:n.17+3359_17+3363del
ENST00000646433.1:c.922+3628_922+3632del (POLR1C)	ENSP00000494368.1:n.922+3628_922+3632del
ENST00000646700.1:c.922+3628_922+3632del (POLR1C)	ENSP00000495521.1:n.922+3628_922+3632del
ENST00000265351.11:c.3313-45_3313-41del (XPO5)	ENSP00000265351.7:n.3313-45_3313-41del
ENST00000304004.7:c.922+3628_922+3632del (POLR1C)	ENSP00000307212.3:n.922+3628_922+3632del
ENST00000455285.2:c.657-45_657-41del (XPO5)
ENST00000455854.2:n.1796-45_1796-41del (XPO5)
ENST00000486936.2:c.500-45_500-41del (XPO5)
ENST00000488195.6:n.710-45_710-41del (XPO5)
NM_020750.2:c.3313-45_3313-41del (XPO5)	NP_065801.1:n.3313-45_3313-41del
XM_005249491.1:c.922+3628_922+3632del (POLR1C)	XP_005249548.1:n.922+3628_922+3632del
XM_011515000.1:c.922+3628_922+3632del (POLR1C)	XP_011513302.1:n.922+3628_922+3632del
NM_001318876.1:c.922+3628_922+3632del (POLR1C)	NP_001305805.1:n.922+3628_922+3632del
NM_001363658.1:c.922+3628_922+3632del (POLR1C)	NP_001350587.1:n.922+3628_922+3632del
NR_144392.1:n.3662-45_3662-41del (XPO5)
NM_020750.3:c.3313-45_3313-41del (XPO5) MANE Select	NP_065801.1:n.3313-45_3313-41del
NM_001363658.2:c.922+3628_922+3632del (POLR1C)	NP_001350587.1:n.922+3628_922+3632del
NM_001318876.2:c.922+3628_922+3632del (POLR1C)	NP_001305805.1:n.922+3628_922+3632del
NR_144392.2:n.3625-45_3625-41del (XPO5)