Canonical Allele Identifier: CA1539577846

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36957979_36957981delinsGTC , CM000667.2:g.36957979_36957981delinsGTC	GRCh38
NC_000005.9:g.36958081_36958083delinsGTC , CM000667.1:g.36958081_36958083delinsGTC	GRCh37
NC_000005.8:g.36993838_36993840delinsGTC	NCBI36
NG_006987.1:g.86097_86099delinsGTC
NG_006987.2:g.86097_86099delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.231-125_231-123delinsGTC MANE Select	ENSP00000282516.8:n.231-125_231-123delinsGTC
ENST00000652901.1:c.231-125_231-123delinsGTC	ENSP00000499536.1:n.231-125_231-123delinsGTC
ENST00000282516.12:c.231-125_231-123delinsGTC	ENSP00000282516.8:n.231-125_231-123delinsGTC
ENST00000448238.2:c.231-125_231-123delinsGTC	ENSP00000406266.2:n.231-125_231-123delinsGTC
ENST00000505998.5:n.210-125_210-123delinsGTC
ENST00000621733.1:c.-1+80957_-1+80959delinsGTC	ENSP00000480694.1:n.-1+80957_-1+80959delinsGTC
NM_015384.4:c.231-125_231-123delinsGTC	NP_056199.2:n.231-125_231-123delinsGTC
NM_133433.3:c.231-125_231-123delinsGTC	NP_597677.2:n.231-125_231-123delinsGTC
XM_005248280.2:c.231-125_231-123delinsGTC	XP_005248337.1:n.231-125_231-123delinsGTC
XM_006714467.2:c.231-125_231-123delinsGTC	XP_006714530.1:n.231-125_231-123delinsGTC
XM_006714468.1:c.231-125_231-123delinsGTC	XP_006714531.1:n.231-125_231-123delinsGTC
XM_011514014.1:c.231-125_231-123delinsGTC	XP_011512316.1:n.231-125_231-123delinsGTC
XM_011514015.1:c.231-125_231-123delinsGTC	XP_011512317.1:n.231-125_231-123delinsGTC
XM_005248280.3:c.231-125_231-123delinsGTC	XP_005248337.1:n.231-125_231-123delinsGTC
XM_006714468.2:c.231-125_231-123delinsGTC	XP_006714531.1:n.231-125_231-123delinsGTC
XM_017009329.1:c.231-125_231-123delinsGTC	XP_016864818.1:n.231-125_231-123delinsGTC
XM_017009331.1:c.231-125_231-123delinsGTC	XP_016864820.1:n.231-125_231-123delinsGTC
NM_133433.4:c.231-125_231-123delinsGTC MANE Select	NP_597677.2:n.231-125_231-123delinsGTC
NM_015384.5:c.231-125_231-123delinsGTC	NP_056199.2:n.231-125_231-123delinsGTC