Canonical Allele Identifier: CA1539599709

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995502_36995507delinsTTAAAA , CM000667.2:g.36995502_36995507delinsTTAAAA	GRCh38
NC_000005.9:g.36995604_36995609delinsTTAAAA , CM000667.1:g.36995604_36995609delinsTTAAAA	GRCh37
NC_000005.8:g.37031361_37031366delinsTTAAAA	NCBI36
NG_006987.1:g.123620_123625delinsTTAAAA
NG_006987.2:g.123620_123625delinsTTAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3122-120_3122-115delinsTTAAAA MANE Select	ENSP00000282516.8:n.3122-120_3122-115deli...
ENST00000652901.1:c.3122-120_3122-115delinsTTAAAA	ENSP00000499536.1:n.3122-120_3122-115deli...
ENST00000282516.12:c.3122-120_3122-115delinsTTAAAA	ENSP00000282516.8:n.3122-120_3122-115deli...
ENST00000448238.2:c.3122-120_3122-115delinsTTAAAA	ENSP00000406266.2:n.3122-120_3122-115deli...
ENST00000503274.1:n.353_358delinsTTAAAA
ENST00000504430.5:n.2742-120_2742-115delinsTTAAAA
ENST00000621733.1:c.1-69076_1-69071delinsTTAAAA	ENSP00000480694.1:n.1-69076_1-69071delins...
NM_015384.4:c.3122-120_3122-115delinsTTAAAA	NP_056199.2:n.3122-120_3122-115delinsTTAA...
NM_133433.3:c.3122-120_3122-115delinsTTAAAA	NP_597677.2:n.3122-120_3122-115delinsTTAA...
XM_005248280.2:c.3122-120_3122-115delinsTTAAAA	XP_005248337.1:n.3122-120_3122-115delinsT...
XM_005248282.3:c.2378-120_2378-115delinsTTAAAA	XP_005248339.2:n.2378-120_2378-115delinsT...
XM_006714467.2:c.3122-120_3122-115delinsTTAAAA	XP_006714530.1:n.3122-120_3122-115delinsT...
XM_006714468.1:c.3122-120_3122-115delinsTTAAAA	XP_006714531.1:n.3122-120_3122-115delinsT...
XM_011514014.1:c.3122-5315_3122-5310delinsTTAAAA	XP_011512316.1:n.3122-5315_3122-5310delin...
XM_011514015.1:c.3122-120_3122-115delinsTTAAAA	XP_011512317.1:n.3122-120_3122-115delinsT...
XM_005248280.3:c.3122-120_3122-115delinsTTAAAA	XP_005248337.1:n.3122-120_3122-115delinsT...
XM_005248282.5:c.2462-120_2462-115delinsTTAAAA	XP_005248339.3:n.2462-120_2462-115delinsT...
XM_006714468.2:c.3122-120_3122-115delinsTTAAAA	XP_006714531.1:n.3122-120_3122-115delinsT...
XM_017009329.1:c.3122-120_3122-115delinsTTAAAA	XP_016864818.1:n.3122-120_3122-115delinsT...
XM_017009330.2:c.1505-120_1505-115delinsTTAAAA	XP_016864819.1:n.1505-120_1505-115delinsT...
XM_017009331.1:c.1496-120_1496-115delinsTTAAAA	XP_016864820.1:n.1496-120_1496-115delinsT...
NM_133433.4:c.3122-120_3122-115delinsTTAAAA MANE Select	NP_597677.2:n.3122-120_3122-115delinsTTAA...
NM_015384.5:c.3122-120_3122-115delinsTTAAAA	NP_056199.2:n.3122-120_3122-115delinsTTAA...