Canonical Allele Identifier: CA1539599335

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995328_36995332delinsTAGTC , CM000667.2:g.36995328_36995332delinsTAGTC	GRCh38
NC_000005.9:g.36995430_36995434delinsTAGTC , CM000667.1:g.36995430_36995434delinsTAGTC	GRCh37
NC_000005.8:g.37031187_37031191delinsTAGTC	NCBI36
NG_006987.1:g.123446_123450delinsTAGTC
NG_006987.2:g.123446_123450delinsTAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3122-294_3122-290delinsTAGTC MANE Select	ENSP00000282516.8:n.3122-294_3122-290delinsTAGTC
ENST00000652901.1:c.3122-294_3122-290delinsTAGTC	ENSP00000499536.1:n.3122-294_3122-290delinsTAGTC
ENST00000282516.12:c.3122-294_3122-290delinsTAGTC	ENSP00000282516.8:n.3122-294_3122-290delinsTAGTC
ENST00000448238.2:c.3122-294_3122-290delinsTAGTC	ENSP00000406266.2:n.3122-294_3122-290delinsTAGTC
ENST00000503274.1:n.179_183delinsTAGTC
ENST00000504430.5:n.2742-294_2742-290delinsTAGTC
ENST00000621733.1:c.1-69250_1-69246delinsTAGTC	ENSP00000480694.1:n.1-69250_1-69246delinsTAGTC
NM_015384.4:c.3122-294_3122-290delinsTAGTC	NP_056199.2:n.3122-294_3122-290delinsTAGTC
NM_133433.3:c.3122-294_3122-290delinsTAGTC	NP_597677.2:n.3122-294_3122-290delinsTAGTC
XM_005248280.2:c.3122-294_3122-290delinsTAGTC	XP_005248337.1:n.3122-294_3122-290delinsTAGTC
XM_005248282.3:c.2378-294_2378-290delinsTAGTC	XP_005248339.2:n.2378-294_2378-290delinsTAGTC
XM_006714467.2:c.3122-294_3122-290delinsTAGTC	XP_006714530.1:n.3122-294_3122-290delinsTAGTC
XM_006714468.1:c.3122-294_3122-290delinsTAGTC	XP_006714531.1:n.3122-294_3122-290delinsTAGTC
XM_011514014.1:c.3122-5489_3122-5485delinsTAGTC	XP_011512316.1:n.3122-5489_3122-5485delinsTAGTC
XM_011514015.1:c.3122-294_3122-290delinsTAGTC	XP_011512317.1:n.3122-294_3122-290delinsTAGTC
XM_005248280.3:c.3122-294_3122-290delinsTAGTC	XP_005248337.1:n.3122-294_3122-290delinsTAGTC
XM_005248282.5:c.2462-294_2462-290delinsTAGTC	XP_005248339.3:n.2462-294_2462-290delinsTAGTC
XM_006714468.2:c.3122-294_3122-290delinsTAGTC	XP_006714531.1:n.3122-294_3122-290delinsTAGTC
XM_017009329.1:c.3122-294_3122-290delinsTAGTC	XP_016864818.1:n.3122-294_3122-290delinsTAGTC
XM_017009330.2:c.1505-294_1505-290delinsTAGTC	XP_016864819.1:n.1505-294_1505-290delinsTAGTC
XM_017009331.1:c.1496-294_1496-290delinsTAGTC	XP_016864820.1:n.1496-294_1496-290delinsTAGTC
NM_133433.4:c.3122-294_3122-290delinsTAGTC MANE Select	NP_597677.2:n.3122-294_3122-290delinsTAGTC
NM_015384.5:c.3122-294_3122-290delinsTAGTC	NP_056199.2:n.3122-294_3122-290delinsTAGTC