Canonical Allele Identifier: CA562326255
Community Standard Title: NM_001375405.1(CEP120):c.2104-15_2104-13dup
Gene: CEP120 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.123378456_123378458dup , CM000667.2:g.123378456_123378458dup GRCh38
NC_000005.9:g.122714150_122714152dup , CM000667.1:g.122714150_122714152dup GRCh37
NC_000005.8:g.122742049_122742051dup NCBI36
NG_042125.1:g.50150_50152dup

Transcript Alleles

HGVS Amino-acid Change
NM_001375405.1:c.2104-15_2104-13dup MANE Select NP_001362334.1:n.2104-15_2104-13dup
ENST00000306467.10:c.2104-15_2104-13dup MANE Select ENSP00000303058.6:n.2104-15_2104-13dup
NM_001166226.1:c.2026-15_2026-13dup NP_001159698.1:n.2026-15_2026-13dup
NM_001166226.2:c.2026-15_2026-13dup NP_001159698.1:n.2026-15_2026-13dup
NM_001375406.1:c.1969-15_1969-13dup NP_001362335.1:n.1969-15_1969-13dup
NM_001375407.1:c.2104-15_2104-13dup NP_001362336.1:n.2104-15_2104-13dup
NM_001375408.1:c.1531-15_1531-13dup NP_001362337.1:n.1531-15_1531-13dup
NM_001375409.1:c.1531-15_1531-13dup NP_001362338.1:n.1531-15_1531-13dup
NM_153223.3:c.2104-15_2104-13dup NP_694955.2:n.2104-15_2104-13dup
NM_153223.4:c.2104-15_2104-13dup NP_694955.2:n.2104-15_2104-13dup
NR_164685.1:n.2862-15_2862-13dup
ENST00000306467.9:c.2104-15_2104-13dup ENSP00000303058.5:n.2104-15_2104-13dup
ENST00000306481.10:c.2026-15_2026-13dup ENSP00000307419.6:n.2026-15_2026-13dup
ENST00000306481.11:c.2026-15_2026-13dup ENSP00000307419.6:n.2026-15_2026-13dup
ENST00000328236.10:c.2104-15_2104-13dup ENSP00000327504.5:n.2104-15_2104-13dup
ENST00000328236.9:c.2104-15_2104-13dup ENSP00000327504.5:n.2104-15_2104-13dup
ENST00000508138.5:c.*1676-15_*1676-13dup ENSP00000422234.1:n.*1676-15_*1676-13dup
ENST00000508442.6:c.2026-15_2026-13dup ENSP00000421620.2:n.2026-15_2026-13dup
ENST00000508442.7:c.2026-15_2026-13dup ENSP00000421620.3:n.2026-15_2026-13dup
ENST00000513565.6:c.*1314-15_*1314-13dup ENSP00000422089.2:n.*1314-15_*1314-13dup
ENST00000674620.1:c.*1455-15_*1455-13dup ENSP00000501651.1:n.*1455-15_*1455-13dup
ENST00000674667.1:c.*765-15_*765-13dup ENSP00000502819.1:n.*765-15_*765-13dup
ENST00000674684.1:c.2104-15_2104-13dup ENSP00000501697.1:n.2104-15_2104-13dup
ENST00000675003.1:n.2602-15_2602-13dup
ENST00000675104.1:c.*765-15_*765-13dup ENSP00000502078.1:n.*765-15_*765-13dup
ENST00000675283.1:n.1939-15_1939-13dup
ENST00000675330.1:c.1969-15_1969-13dup ENSP00000502634.1:n.1969-15_1969-13dup
ENST00000675442.1:c.2026-15_2026-13dup ENSP00000502221.1:n.2026-15_2026-13dup
ENST00000675444.1:n.2527-15_2527-13dup
ENST00000675686.1:c.*2000-15_*2000-13dup ENSP00000501801.1:n.*2000-15_*2000-13dup
ENST00000675814.1:c.*1657-15_*1657-13dup ENSP00000502121.1:n.*1657-15_*1657-13dup
ENST00000675852.1:n.3975-15_3975-13dup
ENST00000676068.1:n.658-15_658-13dup
XM_005271901.3:c.1969-15_1969-13dup XP_005271958.1:n.1969-15_1969-13dup
XM_005271901.5:c.1969-15_1969-13dup XP_005271958.1:n.1969-15_1969-13dup
XM_011543185.1:c.2026-15_2026-13dup XP_011541487.1:n.2026-15_2026-13dup
XM_011543185.2:c.2026-15_2026-13dup XP_011541487.1:n.2026-15_2026-13dup
XM_011543186.1:c.637-15_637-13dup XP_011541488.1:n.637-15_637-13dup
XM_011543186.2:c.637-15_637-13dup XP_011541488.1:n.637-15_637-13dup
XM_017009085.1:c.637-15_637-13dup XP_016864574.1:n.637-15_637-13dup
XM_024454370.1:c.2104-15_2104-13dup XP_024310138.1:n.2104-15_2104-13dup