Canonical Allele Identifier: CA2678876562

Gene: XPO5 POLR1C

Linked Data

• gnomAD v4: 6-43524603-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524603_43524604insTG , CM000668.2:g.43524603_43524604insTG	GRCh38
NC_000006.11:g.43492341_43492342insTG , CM000668.1:g.43492341_43492342insTG	GRCh37
NC_000006.10:g.43600319_43600320insTG	NCBI36
NG_028283.3:g.19902_19903insTG
NG_051658.1:g.56472_56473insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3344_3345insCA (XPO5) MANE Select	ENSP00000265351.7:p.Met1115IlefsTer21
ENST00000607635.2:c.922+3555_922+3556insTG (POLR1C)	ENSP00000496683.1:n.922+3555_922+3556insTG
ENST00000643341.1:c.922+3555_922+3556insTG (POLR1C)	ENSP00000496018.1:n.922+3555_922+3556insTG
ENST00000643799.1:c.*17+3286_*17+3287insTG (POLR1C)	ENSP00000494529.1:n.*17+3286_*17+3287insTG
ENST00000646433.1:c.922+3555_922+3556insTG (POLR1C)	ENSP00000494368.1:n.922+3555_922+3556insTG
ENST00000646700.1:c.922+3555_922+3556insTG (POLR1C)	ENSP00000495521.1:n.922+3555_922+3556insTG
ENST00000265351.11:c.3344_3345insCA (XPO5)	ENSP00000265351.7:p.Met1115IlefsTer21
ENST00000304004.7:c.922+3555_922+3556insTG (POLR1C)	ENSP00000307212.3:n.922+3555_922+3556insTG
ENST00000455285.2:c.688_689insCA (XPO5)
ENST00000455854.2:n.1827_1828insCA (XPO5)
ENST00000486936.2:c.531_532insCA (XPO5)
ENST00000488195.6:n.741_742insCA (XPO5)
NM_020750.2:c.3344_3345insCA (XPO5)	NP_065801.1:p.Met1115IlefsTer21
XM_005249491.1:c.922+3555_922+3556insTG (POLR1C)	XP_005249548.1:n.922+3555_922+3556insTG
XM_011515000.1:c.922+3555_922+3556insTG (POLR1C)	XP_011513302.1:n.922+3555_922+3556insTG
NM_001318876.1:c.922+3555_922+3556insTG (POLR1C)	NP_001305805.1:n.922+3555_922+3556insTG
NM_001363658.1:c.922+3555_922+3556insTG (POLR1C)	NP_001350587.1:n.922+3555_922+3556insTG
NR_144392.1:n.3693_3694insCA (XPO5)
NM_020750.3:c.3344_3345insCA (XPO5) MANE Select	NP_065801.1:p.Met1115IlefsTer21
NM_001363658.2:c.922+3555_922+3556insTG (POLR1C)	NP_001350587.1:n.922+3555_922+3556insTG
NM_001318876.2:c.922+3555_922+3556insTG (POLR1C)	NP_001305805.1:n.922+3555_922+3556insTG
NR_144392.2:n.3656_3657insCA (XPO5)