Canonical Allele Identifier: CA2578289917
Gene: NIPBL HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

gnomAD v4: 5-37064336-TTA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37064340_37064341del , CM000667.2:g.37064340_37064341del GRCh38
NC_000005.9:g.37064442_37064443del , CM000667.1:g.37064442_37064443del GRCh37
NC_000005.8:g.37100199_37100200del NCBI36
NG_006987.1:g.192458_192459del
NG_006987.2:g.192458_192459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282516.13:c.8050-187_8050-186del (NIPBL) MANE Select ENSP00000282516.8:n.8050-187_8050-186del
ENST00000652901.1:c.7944-187_7944-186del (NIPBL) ENSP00000499536.1:n.7944-187_7944-186del
ENST00000282516.12:c.8050-187_8050-186del (NIPBL) ENSP00000282516.8:n.8050-187_8050-186del
ENST00000514335.1:n.1973-187_1973-186del (NIPBL)
ENST00000621733.1:c.1-238_1-237del (NIPBL) ENSP00000480694.1:n.1-238_1-237del
NM_015384.4:c.*317_*318del (NIPBL) NP_056199.2:n.*317_*318del
NM_133433.3:c.8050-187_8050-186del (NIPBL) NP_597677.2:n.8050-187_8050-186del
XM_005248280.2:c.8091-187_8091-186del (NIPBL) XP_005248337.1:n.8091-187_8091-186del
XM_005248282.3:c.7306-187_7306-186del (NIPBL) XP_005248339.2:n.7306-187_7306-186del
XM_006714467.2:c.7903-187_7903-186del (NIPBL) XP_006714530.1:n.7903-187_7903-186del
XM_006714468.1:c.7852-187_7852-186del (NIPBL) XP_006714531.1:n.7852-187_7852-186del
XM_011514014.1:c.7669-187_7669-186del (NIPBL) XP_011512316.1:n.7669-187_7669-186del
XM_005248280.3:c.8091-187_8091-186del (NIPBL) XP_005248337.1:n.8091-187_8091-186del
XM_005248282.5:c.7390-187_7390-186del (NIPBL) XP_005248339.3:n.7390-187_7390-186del
XM_006714468.2:c.7852-187_7852-186del (NIPBL) XP_006714531.1:n.7852-187_7852-186del
XM_017009329.1:c.7944-187_7944-186del (NIPBL) XP_016864818.1:n.7944-187_7944-186del
XM_017009330.2:c.6433-187_6433-186del (NIPBL) XP_016864819.1:n.6433-187_6433-186del
XM_017009331.1:c.6424-187_6424-186del (NIPBL) XP_016864820.1:n.6424-187_6424-186del
XR_925644.2:n.12344_12345del (CPLANE1)
NM_133433.4:c.8050-187_8050-186del (NIPBL) MANE Select NP_597677.2:n.8050-187_8050-186del
NM_015384.5:c.*317_*318del (NIPBL) NP_056199.2:n.*317_*318del
Search 100 bp 5'
Search 100 bp 3'