Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524684_43524697del , CM000668.2:g.43524684_43524697del	GRCh38
NC_000006.11:g.43492422_43492435del , CM000668.1:g.43492422_43492435del	GRCh37
NC_000006.10:g.43600400_43600413del	NCBI36
NG_028283.3:g.19983_19996del
NG_051658.1:g.56380_56393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3313-61_3313-48del (XPO5) MANE Select	ENSP00000265351.7:n.3313-61_3313-48del
ENST00000607635.2:c.922+3636_922+3649del (POLR1C)	ENSP00000496683.1:n.922+3636_922+3649del
ENST00000643341.1:c.922+3636_922+3649del (POLR1C)	ENSP00000496018.1:n.922+3636_922+3649del
ENST00000643799.1:c.17+3367_17+3380del (POLR1C)	ENSP00000494529.1:n.17+3367_17+3380del
ENST00000646433.1:c.922+3636_922+3649del (POLR1C)	ENSP00000494368.1:n.922+3636_922+3649del
ENST00000646700.1:c.922+3636_922+3649del (POLR1C)	ENSP00000495521.1:n.922+3636_922+3649del
ENST00000265351.11:c.3313-61_3313-48del (XPO5)	ENSP00000265351.7:n.3313-61_3313-48del
ENST00000304004.7:c.922+3636_922+3649del (POLR1C)	ENSP00000307212.3:n.922+3636_922+3649del
ENST00000455285.2:c.657-61_657-48del (XPO5)
ENST00000455854.2:n.1796-61_1796-48del (XPO5)
ENST00000486936.2:c.500-61_500-48del (XPO5)
ENST00000488195.6:n.710-61_710-48del (XPO5)
NM_020750.2:c.3313-61_3313-48del (XPO5)	NP_065801.1:n.3313-61_3313-48del
XM_005249491.1:c.922+3636_922+3649del (POLR1C)	XP_005249548.1:n.922+3636_922+3649del
XM_011515000.1:c.922+3636_922+3649del (POLR1C)	XP_011513302.1:n.922+3636_922+3649del
NM_001318876.1:c.922+3636_922+3649del (POLR1C)	NP_001305805.1:n.922+3636_922+3649del
NM_001363658.1:c.922+3636_922+3649del (POLR1C)	NP_001350587.1:n.922+3636_922+3649del
NR_144392.1:n.3662-61_3662-48del (XPO5)
NM_020750.3:c.3313-61_3313-48del (XPO5) MANE Select	NP_065801.1:n.3313-61_3313-48del
NM_001363658.2:c.922+3636_922+3649del (POLR1C)	NP_001350587.1:n.922+3636_922+3649del
NM_001318876.2:c.922+3636_922+3649del (POLR1C)	NP_001305805.1:n.922+3636_922+3649del
NR_144392.2:n.3625-61_3625-48del (XPO5)