Canonical Allele Identifier: CA1539599671

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995478_36995480delinsTAA , CM000667.2:g.36995478_36995480delinsTAA	GRCh38
NC_000005.9:g.36995580_36995582delinsTAA , CM000667.1:g.36995580_36995582delinsTAA	GRCh37
NC_000005.8:g.37031337_37031339delinsTAA	NCBI36
NG_006987.1:g.123596_123598delinsTAA
NG_006987.2:g.123596_123598delinsTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-144_3122-142delinsTAA MANE Select	ENSP00000282516.8:n.3122-144_3122-142deli...
ENST00000652901.1:c.3122-144_3122-142delinsTAA	ENSP00000499536.1:n.3122-144_3122-142deli...
ENST00000282516.12:c.3122-144_3122-142delinsTAA	ENSP00000282516.8:n.3122-144_3122-142deli...
ENST00000448238.2:c.3122-144_3122-142delinsTAA	ENSP00000406266.2:n.3122-144_3122-142deli...
ENST00000503274.1:n.329_331delinsTAA
ENST00000504430.5:n.2742-144_2742-142delinsTAA
ENST00000621733.1:c.1-69100_1-69098delinsTAA	ENSP00000480694.1:n.1-69100_1-69098delins...
NM_015384.4:c.3122-144_3122-142delinsTAA	NP_056199.2:n.3122-144_3122-142delinsTAA
NM_133433.3:c.3122-144_3122-142delinsTAA	NP_597677.2:n.3122-144_3122-142delinsTAA
XM_005248280.2:c.3122-144_3122-142delinsTAA	XP_005248337.1:n.3122-144_3122-142delinsT...
XM_005248282.3:c.2378-144_2378-142delinsTAA	XP_005248339.2:n.2378-144_2378-142delinsT...
XM_006714467.2:c.3122-144_3122-142delinsTAA	XP_006714530.1:n.3122-144_3122-142delinsT...
XM_006714468.1:c.3122-144_3122-142delinsTAA	XP_006714531.1:n.3122-144_3122-142delinsT...
XM_011514014.1:c.3122-5339_3122-5337delinsTAA	XP_011512316.1:n.3122-5339_3122-5337delin...
XM_011514015.1:c.3122-144_3122-142delinsTAA	XP_011512317.1:n.3122-144_3122-142delinsT...
XM_005248280.3:c.3122-144_3122-142delinsTAA	XP_005248337.1:n.3122-144_3122-142delinsT...
XM_005248282.5:c.2462-144_2462-142delinsTAA	XP_005248339.3:n.2462-144_2462-142delinsT...
XM_006714468.2:c.3122-144_3122-142delinsTAA	XP_006714531.1:n.3122-144_3122-142delinsT...
XM_017009329.1:c.3122-144_3122-142delinsTAA	XP_016864818.1:n.3122-144_3122-142delinsT...
XM_017009330.2:c.1505-144_1505-142delinsTAA	XP_016864819.1:n.1505-144_1505-142delinsT...
XM_017009331.1:c.1496-144_1496-142delinsTAA	XP_016864820.1:n.1496-144_1496-142delinsT...
NM_133433.4:c.3122-144_3122-142delinsTAA MANE Select	NP_597677.2:n.3122-144_3122-142delinsTAA
NM_015384.5:c.3122-144_3122-142delinsTAA	NP_056199.2:n.3122-144_3122-142delinsTAA