Canonical Allele Identifier: CA1624564044

Linked Data

dbSNP Id: rs1793400542

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43524351_43524352del , CM000668.2:g.43524351_43524352del GRCh38
NC_000006.11:g.43492089_43492090del , CM000668.1:g.43492089_43492090del GRCh37
NC_000006.10:g.43600067_43600068del NCBI36
NG_028283.3:g.19650_19651del
NG_051658.1:g.56726_56727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265351.12:c.3477+121_3477+122del (XPO5) MANE Select ENSP00000265351.7:n.3477+121_3477+122del
ENST00000607635.2:c.922+3303_922+3304del (POLR1C) ENSP00000496683.1:n.922+3303_922+3304del
ENST00000643341.1:c.922+3303_922+3304del (POLR1C) ENSP00000496018.1:n.922+3303_922+3304del
ENST00000643799.1:c.*17+3034_*17+3035del (POLR1C) ENSP00000494529.1:n.*17+3034_*17+3035del
ENST00000646433.1:c.922+3303_922+3304del (POLR1C) ENSP00000494368.1:n.922+3303_922+3304del
ENST00000646700.1:c.922+3303_922+3304del (POLR1C) ENSP00000495521.1:n.922+3303_922+3304del
ENST00000265351.11:c.3477+121_3477+122del (XPO5) ENSP00000265351.7:n.3477+121_3477+122del
ENST00000304004.7:c.922+3303_922+3304del (POLR1C) ENSP00000307212.3:n.922+3303_922+3304del
ENST00000455854.2:n.1960+121_1960+122del (XPO5)
NM_020750.2:c.3477+121_3477+122del (XPO5) NP_065801.1:n.3477+121_3477+122del
XM_005249491.1:c.922+3303_922+3304del (POLR1C) XP_005249548.1:n.922+3303_922+3304del
XM_011515000.1:c.922+3303_922+3304del (POLR1C) XP_011513302.1:n.922+3303_922+3304del
NM_001318876.1:c.922+3303_922+3304del (POLR1C) NP_001305805.1:n.922+3303_922+3304del
NM_001363658.1:c.922+3303_922+3304del (POLR1C) NP_001350587.1:n.922+3303_922+3304del
NR_144392.1:n.3826+121_3826+122del (XPO5)
NM_020750.3:c.3477+121_3477+122del (XPO5) MANE Select NP_065801.1:n.3477+121_3477+122del
NM_001363658.2:c.922+3303_922+3304del (POLR1C) NP_001350587.1:n.922+3303_922+3304del
NM_001318876.2:c.922+3303_922+3304del (POLR1C) NP_001305805.1:n.922+3303_922+3304del
NR_144392.2:n.3789+121_3789+122del (XPO5)