Canonical Allele Identifier: CA2840622823

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43524433_43524435del , CM000668.2:g.43524433_43524435del GRCh38
NC_000006.11:g.43492171_43492173del , CM000668.1:g.43492171_43492173del GRCh37
NC_000006.10:g.43600149_43600151del NCBI36
NG_028283.3:g.19732_19734del
NG_051658.1:g.56644_56646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265351.12:c.3477+39_3477+41del (XPO5) MANE Select ENSP00000265351.7:n.3477+39_3477+41del
ENST00000607635.2:c.922+3385_922+3387del (POLR1C) ENSP00000496683.1:n.922+3385_922+3387del
ENST00000643341.1:c.922+3385_922+3387del (POLR1C) ENSP00000496018.1:n.922+3385_922+3387del
ENST00000643799.1:c.*17+3116_*17+3118del (POLR1C) ENSP00000494529.1:n.*17+3116_*17+3118del
ENST00000646433.1:c.922+3385_922+3387del (POLR1C) ENSP00000494368.1:n.922+3385_922+3387del
ENST00000646700.1:c.922+3385_922+3387del (POLR1C) ENSP00000495521.1:n.922+3385_922+3387del
ENST00000265351.11:c.3477+39_3477+41del (XPO5) ENSP00000265351.7:n.3477+39_3477+41del
ENST00000304004.7:c.922+3385_922+3387del (POLR1C) ENSP00000307212.3:n.922+3385_922+3387del
ENST00000455854.2:n.1960+39_1960+41del (XPO5)
NM_020750.2:c.3477+39_3477+41del (XPO5) NP_065801.1:n.3477+39_3477+41del
XM_005249491.1:c.922+3385_922+3387del (POLR1C) XP_005249548.1:n.922+3385_922+3387del
XM_011515000.1:c.922+3385_922+3387del (POLR1C) XP_011513302.1:n.922+3385_922+3387del
NM_001318876.1:c.922+3385_922+3387del (POLR1C) NP_001305805.1:n.922+3385_922+3387del
NM_001363658.1:c.922+3385_922+3387del (POLR1C) NP_001350587.1:n.922+3385_922+3387del
NR_144392.1:n.3826+39_3826+41del (XPO5)
NM_020750.3:c.3477+39_3477+41del (XPO5) MANE Select NP_065801.1:n.3477+39_3477+41del
NM_001363658.2:c.922+3385_922+3387del (POLR1C) NP_001350587.1:n.922+3385_922+3387del
NM_001318876.2:c.922+3385_922+3387del (POLR1C) NP_001305805.1:n.922+3385_922+3387del
NR_144392.2:n.3789+39_3789+41del (XPO5)