Canonical Allele Identifier: CA2678876415

Gene: XPO5 POLR1C

Linked Data

• gnomAD v4: 6-43524469-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524472_43524473dup , CM000668.2:g.43524472_43524473dup	GRCh38
NC_000006.11:g.43492210_43492211dup , CM000668.1:g.43492210_43492211dup	GRCh37
NC_000006.10:g.43600188_43600189dup	NCBI36
NG_028283.3:g.19771_19772dup
NG_051658.1:g.56605_56606dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3477_3477+1dup (XPO5)
ENST00000607635.2:c.922+3424_922+3425dup (POLR1C)	ENSP00000496683.1:n.922+3424_922+3425dup
ENST00000643341.1:c.922+3424_922+3425dup (POLR1C)	ENSP00000496018.1:n.922+3424_922+3425dup
ENST00000643799.1:c.*17+3155_*17+3156dup (POLR1C)	ENSP00000494529.1:n.*17+3155_*17+3156dup
ENST00000646433.1:c.922+3424_922+3425dup (POLR1C)	ENSP00000494368.1:n.922+3424_922+3425dup
ENST00000646700.1:c.922+3424_922+3425dup (POLR1C)	ENSP00000495521.1:n.922+3424_922+3425dup
ENST00000265351.11:c.3477_3477+1dup (XPO5)
ENST00000304004.7:c.922+3424_922+3425dup (POLR1C)	ENSP00000307212.3:n.922+3424_922+3425dup
ENST00000455854.2:n.1960_1960+1dup (XPO5)
NM_020750.2:c.3477_3477+1dup (XPO5)
XM_005249491.1:c.922+3424_922+3425dup (POLR1C)	XP_005249548.1:n.922+3424_922+3425dup
XM_011515000.1:c.922+3424_922+3425dup (POLR1C)	XP_011513302.1:n.922+3424_922+3425dup
NM_001318876.1:c.922+3424_922+3425dup (POLR1C)	NP_001305805.1:n.922+3424_922+3425dup
NM_001363658.1:c.922+3424_922+3425dup (POLR1C)	NP_001350587.1:n.922+3424_922+3425dup
NR_144392.1:n.3826_3826+1dup (XPO5)
NM_020750.3:c.3477_3477+1dup (XPO5)
NM_001363658.2:c.922+3424_922+3425dup (POLR1C)	NP_001350587.1:n.922+3424_922+3425dup
NM_001318876.2:c.922+3424_922+3425dup (POLR1C)	NP_001305805.1:n.922+3424_922+3425dup
NR_144392.2:n.3789_3789+1dup (XPO5)