Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524813_43524824dup , CM000668.2:g.43524813_43524824dup	GRCh38
NC_000006.11:g.43492551_43492562dup , CM000668.1:g.43492551_43492562dup	GRCh37
NC_000006.10:g.43600529_43600540dup	NCBI36
NG_028283.3:g.20112_20123dup
NG_051658.1:g.56260_56271dup

Transcript Alleles

HGVS	Amino-acid Change
NM_020750.3:c.3312+15_3312+26dup (XPO5) MANE Select	NP_065801.1:n.3312+15_3312+26dup
ENST00000265351.12:c.3312+15_3312+26dup (XPO5) MANE Select	ENSP00000265351.7:n.3312+15_3312+26dup
NM_001318876.1:c.922+3765_922+3776dup (POLR1C)	NP_001305805.1:n.922+3765_922+3776dup
NM_001318876.2:c.922+3765_922+3776dup (POLR1C)	NP_001305805.1:n.922+3765_922+3776dup
NM_001363658.1:c.922+3765_922+3776dup (POLR1C)	NP_001350587.1:n.922+3765_922+3776dup
NM_001363658.2:c.922+3765_922+3776dup (POLR1C)	NP_001350587.1:n.922+3765_922+3776dup
NM_020750.2:c.3312+15_3312+26dup (XPO5)	NP_065801.1:n.3312+15_3312+26dup
NR_144392.1:n.3661+15_3661+26dup (XPO5)
NR_144392.2:n.3624+15_3624+26dup (XPO5)
ENST00000265351.11:c.3312+15_3312+26dup (XPO5)	ENSP00000265351.7:n.3312+15_3312+26dup
ENST00000304004.7:c.922+3765_922+3776dup (POLR1C)	ENSP00000307212.3:n.922+3765_922+3776dup
ENST00000455285.2:c.656+15_656+26dup (XPO5)
ENST00000455854.2:n.1795+15_1795+26dup (XPO5)
ENST00000486936.2:c.499+15_499+26dup (XPO5)
ENST00000488195.6:n.709+15_709+26dup (XPO5)
ENST00000607635.2:c.922+3765_922+3776dup (POLR1C)	ENSP00000496683.1:n.922+3765_922+3776dup
ENST00000643341.1:c.922+3765_922+3776dup (POLR1C)	ENSP00000496018.1:n.922+3765_922+3776dup
ENST00000643799.1:c.17+3496_17+3507dup (POLR1C)	ENSP00000494529.1:n.17+3496_17+3507dup
ENST00000646433.1:c.922+3765_922+3776dup (POLR1C)	ENSP00000494368.1:n.922+3765_922+3776dup
ENST00000646700.1:c.922+3765_922+3776dup (POLR1C)	ENSP00000495521.1:n.922+3765_922+3776dup
XM_005249491.1:c.922+3765_922+3776dup (POLR1C)	XP_005249548.1:n.922+3765_922+3776dup
XM_011515000.1:c.922+3765_922+3776dup (POLR1C)	XP_011513302.1:n.922+3765_922+3776dup