Canonical Allele Identifier: CA1539599951

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995600_36995603delinsTAAA , CM000667.2:g.36995600_36995603delinsTAAA	GRCh38
NC_000005.9:g.36995702_36995705delinsTAAA , CM000667.1:g.36995702_36995705delinsTAAA	GRCh37
NC_000005.8:g.37031459_37031462delinsTAAA	NCBI36
NG_006987.1:g.123718_123721delinsTAAA
NG_006987.2:g.123718_123721delinsTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-22_3122-19delinsTAAA MANE Select	ENSP00000282516.8:n.3122-22_3122-19delins...
ENST00000652901.1:c.3122-22_3122-19delinsTAAA	ENSP00000499536.1:n.3122-22_3122-19delins...
ENST00000282516.12:c.3122-22_3122-19delinsTAAA	ENSP00000282516.8:n.3122-22_3122-19delins...
ENST00000448238.2:c.3122-22_3122-19delinsTAAA	ENSP00000406266.2:n.3122-22_3122-19delins...
ENST00000503274.1:n.451_454delinsTAAA
ENST00000504430.5:n.2742-22_2742-19delinsTAAA
ENST00000621733.1:c.1-68978_1-68975delinsTAAA	ENSP00000480694.1:n.1-68978_1-68975delins...
NM_015384.4:c.3122-22_3122-19delinsTAAA	NP_056199.2:n.3122-22_3122-19delinsTAAA
NM_133433.3:c.3122-22_3122-19delinsTAAA	NP_597677.2:n.3122-22_3122-19delinsTAAA
XM_005248280.2:c.3122-22_3122-19delinsTAAA	XP_005248337.1:n.3122-22_3122-19delinsTAA...
XM_005248282.3:c.2378-22_2378-19delinsTAAA	XP_005248339.2:n.2378-22_2378-19delinsTAA...
XM_006714467.2:c.3122-22_3122-19delinsTAAA	XP_006714530.1:n.3122-22_3122-19delinsTAA...
XM_006714468.1:c.3122-22_3122-19delinsTAAA	XP_006714531.1:n.3122-22_3122-19delinsTAA...
XM_011514014.1:c.3122-5217_3122-5214delinsTAAA	XP_011512316.1:n.3122-5217_3122-5214delin...
XM_011514015.1:c.3122-22_3122-19delinsTAAA	XP_011512317.1:n.3122-22_3122-19delinsTAA...
XM_005248280.3:c.3122-22_3122-19delinsTAAA	XP_005248337.1:n.3122-22_3122-19delinsTAA...
XM_005248282.5:c.2462-22_2462-19delinsTAAA	XP_005248339.3:n.2462-22_2462-19delinsTAA...
XM_006714468.2:c.3122-22_3122-19delinsTAAA	XP_006714531.1:n.3122-22_3122-19delinsTAA...
XM_017009329.1:c.3122-22_3122-19delinsTAAA	XP_016864818.1:n.3122-22_3122-19delinsTAA...
XM_017009330.2:c.1505-22_1505-19delinsTAAA	XP_016864819.1:n.1505-22_1505-19delinsTAA...
XM_017009331.1:c.1496-22_1496-19delinsTAAA	XP_016864820.1:n.1496-22_1496-19delinsTAA...
NM_133433.4:c.3122-22_3122-19delinsTAAA MANE Select	NP_597677.2:n.3122-22_3122-19delinsTAAA
NM_015384.5:c.3122-22_3122-19delinsTAAA	NP_056199.2:n.3122-22_3122-19delinsTAAA