Canonical Allele Identifier: CA1539589581
Gene: NIPBL HGNC NCBI
CPLANE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064287_37064288delinsTA , CM000667.2:g.37064287_37064288delinsTA GRCh38
NC_000005.9:g.37064389_37064390delinsTA , CM000667.1:g.37064389_37064390delinsTA GRCh37
NC_000005.8:g.37100146_37100147delinsTA NCBI36
NG_006987.1:g.192405_192406delinsTA
NG_006987.2:g.192405_192406delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.8050-240_8050-239delinsTA (NIPBL) MANE Select ENSP00000282516.8:n.8050-240_8050-239delinsTA
ENST00000652901.1:c.7944-240_7944-239delinsTA (NIPBL) ENSP00000499536.1:n.7944-240_7944-239delinsTA
ENST00000282516.12:c.8050-240_8050-239delinsTA (NIPBL) ENSP00000282516.8:n.8050-240_8050-239delinsTA
ENST00000514335.1:n.1973-240_1973-239delinsTA (NIPBL)
ENST00000621733.1:c.1-291_1-290delinsTA (NIPBL) ENSP00000480694.1:n.1-291_1-290delinsTA
NM_015384.4:c.*264_*265delinsTA (NIPBL) NP_056199.2:n.*264_*265delinsTA
NM_133433.3:c.8050-240_8050-239delinsTA (NIPBL) NP_597677.2:n.8050-240_8050-239delinsTA
XM_005248280.2:c.8091-240_8091-239delinsTA (NIPBL) XP_005248337.1:n.8091-240_8091-239delinsTA
XM_005248282.3:c.7306-240_7306-239delinsTA (NIPBL) XP_005248339.2:n.7306-240_7306-239delinsTA
XM_006714467.2:c.7903-240_7903-239delinsTA (NIPBL) XP_006714530.1:n.7903-240_7903-239delinsTA
XM_006714468.1:c.7852-240_7852-239delinsTA (NIPBL) XP_006714531.1:n.7852-240_7852-239delinsTA
XM_011514014.1:c.7669-240_7669-239delinsTA (NIPBL) XP_011512316.1:n.7669-240_7669-239delinsTA
XM_005248280.3:c.8091-240_8091-239delinsTA (NIPBL) XP_005248337.1:n.8091-240_8091-239delinsTA
XM_005248282.5:c.7390-240_7390-239delinsTA (NIPBL) XP_005248339.3:n.7390-240_7390-239delinsTA
XM_006714468.2:c.7852-240_7852-239delinsTA (NIPBL) XP_006714531.1:n.7852-240_7852-239delinsTA
XM_017009329.1:c.7944-240_7944-239delinsTA (NIPBL) XP_016864818.1:n.7944-240_7944-239delinsTA
XM_017009330.2:c.6433-240_6433-239delinsTA (NIPBL) XP_016864819.1:n.6433-240_6433-239delinsTA
XM_017009331.1:c.6424-240_6424-239delinsTA (NIPBL) XP_016864820.1:n.6424-240_6424-239delinsTA
XR_925644.2:n.12394_12395delinsTA (CPLANE1)
NM_133433.4:c.8050-240_8050-239delinsTA (NIPBL) MANE Select NP_597677.2:n.8050-240_8050-239delinsTA
NM_015384.5:c.*264_*265delinsTA (NIPBL) NP_056199.2:n.*264_*265delinsTA
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