Canonical Allele Identifier: CA2673574889
Gene: NIPBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37000961_37000962insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA , CM000667.2:g.37000961_37000962insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA GRCh38
NC_000005.9:g.37001063_37001064insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA , CM000667.1:g.37001063_37001064insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA GRCh37
NC_000005.8:g.37036820_37036821insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA NCBI36
NG_006987.1:g.129079_129080insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA
NG_006987.2:g.129079_129080insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA MANE Select ENSP00000282516.8:n.3575-28_3575-27insAAA...
ENST00000652901.1:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA ENSP00000499536.1:n.3575-28_3575-27insAAA...
ENST00000282516.12:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA ENSP00000282516.8:n.3575-28_3575-27insAAA...
ENST00000448238.2:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA ENSP00000406266.2:n.3575-28_3575-27insAAA...
ENST00000621733.1:c.1-63617_1-63616insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA ENSP00000480694.1:n.1-63617_1-63616insAAA...
NM_015384.4:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA NP_056199.2:n.3575-28_3575-27insAAACATATT...
NM_133433.3:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA NP_597677.2:n.3575-28_3575-27insAAACATATT...
XM_005248280.2:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_005248337.1:n.3575-28_3575-27insAAACAT...
XM_005248282.3:c.2831-28_2831-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_005248339.2:n.2831-28_2831-27insAAACAT...
XM_006714467.2:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_006714530.1:n.3575-28_3575-27insAAACAT...
XM_006714468.1:c.3377-28_3377-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_006714531.1:n.3377-28_3377-27insAAACAT...
XM_011514014.1:c.3194-28_3194-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_011512316.1:n.3194-28_3194-27insAAACAT...
XM_011514015.1:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_011512317.1:n.3575-28_3575-27insAAACAT...
XM_005248280.3:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_005248337.1:n.3575-28_3575-27insAAACAT...
XM_005248282.5:c.2915-28_2915-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_005248339.3:n.2915-28_2915-27insAAACAT...
XM_006714468.2:c.3377-28_3377-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_006714531.1:n.3377-28_3377-27insAAACAT...
XM_017009329.1:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_016864818.1:n.3575-28_3575-27insAAACAT...
XM_017009330.2:c.1958-28_1958-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_016864819.1:n.1958-28_1958-27insAAACAT...
XM_017009331.1:c.1949-28_1949-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA XP_016864820.1:n.1949-28_1949-27insAAACAT...
NM_133433.4:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA MANE Select NP_597677.2:n.3575-28_3575-27insAAACATATT...
NM_015384.5:c.3575-28_3575-27insAAACATATTCATTATTCTCACATTACAAGTAGACATGTGAGAA NP_056199.2:n.3575-28_3575-27insAAACATATT...