Canonical Allele Identifier: CA2695204249

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000876_37000877insG , CM000667.2:g.37000876_37000877insG	GRCh38
NC_000005.9:g.37000978_37000979insG , CM000667.1:g.37000978_37000979insG	GRCh37
NC_000005.8:g.37036735_37036736insG	NCBI36
NG_006987.1:g.128994_128995insG
NG_006987.2:g.128994_128995insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3562_3563insG MANE Select	ENSP00000282516.8:p.Leu1188ArgfsTer4
ENST00000652901.1:c.3562_3563insG	ENSP00000499536.1:p.Leu1188ArgfsTer4
ENST00000282516.12:c.3562_3563insG	ENSP00000282516.8:p.Leu1188ArgfsTer4
ENST00000448238.2:c.3562_3563insG	ENSP00000406266.2:p.Leu1188ArgfsTer4
ENST00000621733.1:c.1-63702_1-63701insG	ENSP00000480694.1:n.1-63702_1-63701insG
NM_015384.4:c.3562_3563insG	NP_056199.2:p.Leu1188ArgfsTer4
NM_133433.3:c.3562_3563insG	NP_597677.2:p.Leu1188ArgfsTer4
XM_005248280.2:c.3562_3563insG	XP_005248337.1:p.Leu1188ArgfsTer4
XM_005248282.3:c.2818_2819insG	XP_005248339.2:p.Leu940ArgfsTer4
XM_006714467.2:c.3562_3563insG	XP_006714530.1:p.Leu1188ArgfsTer4
XM_006714468.1:c.3364_3365insG	XP_006714531.1:p.Leu1122ArgfsTer4
XM_011514014.1:c.3181_3182insG	XP_011512316.1:p.Leu1061ArgfsTer4
XM_011514015.1:c.3562_3563insG	XP_011512317.1:p.Leu1188ArgfsTer4
XM_005248280.3:c.3562_3563insG	XP_005248337.1:p.Leu1188ArgfsTer4
XM_005248282.5:c.2902_2903insG	XP_005248339.3:p.Leu968ArgfsTer4
XM_006714468.2:c.3364_3365insG	XP_006714531.1:p.Leu1122ArgfsTer4
XM_017009329.1:c.3562_3563insG	XP_016864818.1:p.Leu1188ArgfsTer4
XM_017009330.2:c.1945_1946insG	XP_016864819.1:p.Leu649ArgfsTer4
XM_017009331.1:c.1936_1937insG	XP_016864820.1:p.Leu646ArgfsTer4
NM_133433.4:c.3562_3563insG MANE Select	NP_597677.2:p.Leu1188ArgfsTer4
NM_015384.5:c.3562_3563insG	NP_056199.2:p.Leu1188ArgfsTer4