Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43524351_43524352insAAA , CM000668.2:g.43524351_43524352insAAA	GRCh38
NC_000006.11:g.43492089_43492090insAAA , CM000668.1:g.43492089_43492090insAAA	GRCh37
NC_000006.10:g.43600067_43600068insAAA	NCBI36
NG_028283.3:g.19650_19651insAAA
NG_051658.1:g.56724_56725insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265351.12:c.3477+119_3477+120insTTT (XPO5) MANE Select	ENSP00000265351.7:n.3477+119_3477+120insTTT
ENST00000607635.2:c.922+3303_922+3304insAAA (POLR1C)	ENSP00000496683.1:n.922+3303_922+3304insAAA
ENST00000643341.1:c.922+3303_922+3304insAAA (POLR1C)	ENSP00000496018.1:n.922+3303_922+3304insAAA
ENST00000643799.1:c.17+3034_17+3035insAAA (POLR1C)	ENSP00000494529.1:n.17+3034_17+3035insAAA
ENST00000646433.1:c.922+3303_922+3304insAAA (POLR1C)	ENSP00000494368.1:n.922+3303_922+3304insAAA
ENST00000646700.1:c.922+3303_922+3304insAAA (POLR1C)	ENSP00000495521.1:n.922+3303_922+3304insAAA
ENST00000265351.11:c.3477+119_3477+120insTTT (XPO5)	ENSP00000265351.7:n.3477+119_3477+120insTTT
ENST00000304004.7:c.922+3303_922+3304insAAA (POLR1C)	ENSP00000307212.3:n.922+3303_922+3304insAAA
ENST00000455854.2:n.1960+119_1960+120insTTT (XPO5)
NM_020750.2:c.3477+119_3477+120insTTT (XPO5)	NP_065801.1:n.3477+119_3477+120insTTT
XM_005249491.1:c.922+3303_922+3304insAAA (POLR1C)	XP_005249548.1:n.922+3303_922+3304insAAA
XM_011515000.1:c.922+3303_922+3304insAAA (POLR1C)	XP_011513302.1:n.922+3303_922+3304insAAA
NM_001318876.1:c.922+3303_922+3304insAAA (POLR1C)	NP_001305805.1:n.922+3303_922+3304insAAA
NM_001363658.1:c.922+3303_922+3304insAAA (POLR1C)	NP_001350587.1:n.922+3303_922+3304insAAA
NR_144392.1:n.3826+119_3826+120insTTT (XPO5)
NM_020750.3:c.3477+119_3477+120insTTT (XPO5) MANE Select	NP_065801.1:n.3477+119_3477+120insTTT
NM_001363658.2:c.922+3303_922+3304insAAA (POLR1C)	NP_001350587.1:n.922+3303_922+3304insAAA
NM_001318876.2:c.922+3303_922+3304insAAA (POLR1C)	NP_001305805.1:n.922+3303_922+3304insAAA
NR_144392.2:n.3789+119_3789+120insTTT (XPO5)