Canonical Allele Identifier: CA2695204323

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985391_36985395del , CM000667.2:g.36985391_36985395del	GRCh38
NC_000005.9:g.36985493_36985497del , CM000667.1:g.36985493_36985497del	GRCh37
NC_000005.8:g.37021250_37021254del	NCBI36
NG_006987.1:g.113509_113513del
NG_006987.2:g.113509_113513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2211_2215del MANE Select	ENSP00000282516.8:p.Gln738ArgfsTer2
ENST00000652901.1:c.2211_2215del	ENSP00000499536.1:p.Gln738ArgfsTer2
ENST00000282516.12:c.2211_2215del	ENSP00000282516.8:p.Gln738ArgfsTer2
ENST00000448238.2:c.2211_2215del	ENSP00000406266.2:p.Gln738ArgfsTer2
ENST00000504430.5:n.1831_1835del
ENST00000621733.1:c.1-79187_1-79183del	ENSP00000480694.1:n.1-79187_1-79183del
NM_015384.4:c.2211_2215del	NP_056199.2:p.Gln738ArgfsTer2
NM_133433.3:c.2211_2215del	NP_597677.2:p.Gln738ArgfsTer2
XM_005248280.2:c.2211_2215del	XP_005248337.1:p.Gln738ArgfsTer2
XM_005248282.3:c.1467_1471del	XP_005248339.2:p.Gln490ArgfsTer2
XM_006714467.2:c.2211_2215del	XP_006714530.1:p.Gln738ArgfsTer2
XM_006714468.1:c.2211_2215del	XP_006714531.1:p.Gln738ArgfsTer2
XM_011514014.1:c.2211_2215del	XP_011512316.1:p.Gln738ArgfsTer2
XM_011514015.1:c.2211_2215del	XP_011512317.1:p.Gln738ArgfsTer2
XM_005248280.3:c.2211_2215del	XP_005248337.1:p.Gln738ArgfsTer2
XM_005248282.5:c.1551_1555del	XP_005248339.3:p.Gln518ArgfsTer2
XM_006714468.2:c.2211_2215del	XP_006714531.1:p.Gln738ArgfsTer2
XM_017009329.1:c.2211_2215del	XP_016864818.1:p.Gln738ArgfsTer2
XM_017009330.2:c.594_598del	XP_016864819.1:p.Gln199ArgfsTer2
XM_017009331.1:c.1495+8989_1495+8993del	XP_016864820.1:n.1495+8989_1495+8993del
NM_133433.4:c.2211_2215del MANE Select	NP_597677.2:p.Gln738ArgfsTer2
NM_015384.5:c.2211_2215del	NP_056199.2:p.Gln738ArgfsTer2