Canonical Allele Identifier: CA2499699443
Gene: NIPBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36995529_36995530insTGACACCACCATAAAAATGAAGGGTAATTATAT , CM000667.2:g.36995529_36995530insTGACACCACCATAAAAATGAAGGGTAATTATAT GRCh38
NC_000005.9:g.36995631_36995632insTGACACCACCATAAAAATGAAGGGTAATTATAT , CM000667.1:g.36995631_36995632insTGACACCACCATAAAAATGAAGGGTAATTATAT GRCh37
NC_000005.8:g.37031388_37031389insTGACACCACCATAAAAATGAAGGGTAATTATAT NCBI36
NG_006987.1:g.123647_123648insTGACACCACCATAAAAATGAAGGGTAATTATAT
NG_006987.2:g.123647_123648insTGACACCACCATAAAAATGAAGGGTAATTATAT

Transcript Alleles

HGVS Amino-acid change
ENST00000282516.13:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT MANE Select ENSP00000282516.8:n.3122-93_3122-92insTGA...
ENST00000652901.1:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT ENSP00000499536.1:n.3122-93_3122-92insTGA...
ENST00000282516.12:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT ENSP00000282516.8:n.3122-93_3122-92insTGA...
ENST00000448238.2:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT ENSP00000406266.2:n.3122-93_3122-92insTGA...
ENST00000503274.1:n.380_381insTGACACCACCATAAAAATGAAGGGTAATTATAT
ENST00000504430.5:n.2742-93_2742-92insTGACACCACCATAAAAATGAAGGGTAATTATAT
ENST00000621733.1:c.1-69049_1-69048insTGACACCACCATAAAAATGAAGGGTAATTATAT ENSP00000480694.1:n.1-69049_1-69048insTGA...
NM_015384.4:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT NP_056199.2:n.3122-93_3122-92insTGACACCAC...
NM_133433.3:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT NP_597677.2:n.3122-93_3122-92insTGACACCAC...
XM_005248280.2:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_005248337.1:n.3122-93_3122-92insTGACAC...
XM_005248282.3:c.2378-93_2378-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_005248339.2:n.2378-93_2378-92insTGACAC...
XM_006714467.2:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_006714530.1:n.3122-93_3122-92insTGACAC...
XM_006714468.1:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_006714531.1:n.3122-93_3122-92insTGACAC...
XM_011514014.1:c.3122-5288_3122-5287insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_011512316.1:n.3122-5288_3122-5287insTG...
XM_011514015.1:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_011512317.1:n.3122-93_3122-92insTGACAC...
XM_005248280.3:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_005248337.1:n.3122-93_3122-92insTGACAC...
XM_005248282.5:c.2462-93_2462-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_005248339.3:n.2462-93_2462-92insTGACAC...
XM_006714468.2:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_006714531.1:n.3122-93_3122-92insTGACAC...
XM_017009329.1:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_016864818.1:n.3122-93_3122-92insTGACAC...
XM_017009330.2:c.1505-93_1505-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_016864819.1:n.1505-93_1505-92insTGACAC...
XM_017009331.1:c.1496-93_1496-92insTGACACCACCATAAAAATGAAGGGTAATTATAT XP_016864820.1:n.1496-93_1496-92insTGACAC...
NM_133433.4:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT MANE Select NP_597677.2:n.3122-93_3122-92insTGACACCAC...
NM_015384.5:c.3122-93_3122-92insTGACACCACCATAAAAATGAAGGGTAATTATAT NP_056199.2:n.3122-93_3122-92insTGACACCAC...