Canonical Allele Identifier: CA2765897883

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36985426_36985427insCACCC , CM000667.2:g.36985426_36985427insCACCC	GRCh38
NC_000005.9:g.36985528_36985529insCACCC , CM000667.1:g.36985528_36985529insCACCC	GRCh37
NC_000005.8:g.37021285_37021286insCACCC	NCBI36
NG_006987.1:g.113544_113545insCACCC
NG_006987.2:g.113544_113545insCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.2246_2247insCACCC MANE Select	ENSP00000282516.8:p.Gln749HisfsTer?
ENST00000652901.1:c.2246_2247insCACCC	ENSP00000499536.1:p.Gln749HisfsTer?
ENST00000282516.12:c.2246_2247insCACCC	ENSP00000282516.8:p.Gln749HisfsTer?
ENST00000448238.2:c.2246_2247insCACCC	ENSP00000406266.2:p.Gln749HisfsTer?
ENST00000504430.5:n.1866_1867insCACCC
ENST00000621733.1:c.1-79152_1-79151insCACCC	ENSP00000480694.1:n.1-79152_1-79151insCACCC
NM_015384.4:c.2246_2247insCACCC	NP_056199.2:p.Gln749HisfsTer?
NM_133433.3:c.2246_2247insCACCC	NP_597677.2:p.Gln749HisfsTer?
XM_005248280.2:c.2246_2247insCACCC	XP_005248337.1:p.Gln749HisfsTer?
XM_005248282.3:c.1502_1503insCACCC	XP_005248339.2:p.Gln501HisfsTer?
XM_006714467.2:c.2246_2247insCACCC	XP_006714530.1:p.Gln749HisfsTer?
XM_006714468.1:c.2246_2247insCACCC	XP_006714531.1:p.Gln749HisfsTer?
XM_011514014.1:c.2246_2247insCACCC	XP_011512316.1:p.Gln749HisfsTer?
XM_011514015.1:c.2246_2247insCACCC	XP_011512317.1:p.Gln749HisfsTer?
XM_005248280.3:c.2246_2247insCACCC	XP_005248337.1:p.Gln749HisfsTer?
XM_005248282.5:c.1586_1587insCACCC	XP_005248339.3:p.Gln529HisfsTer?
XM_006714468.2:c.2246_2247insCACCC	XP_006714531.1:p.Gln749HisfsTer?
XM_017009329.1:c.2246_2247insCACCC	XP_016864818.1:p.Gln749HisfsTer?
XM_017009330.2:c.629_630insCACCC	XP_016864819.1:p.Gln210HisfsTer?
XM_017009331.1:c.1495+9024_1495+9025insCACCC	XP_016864820.1:n.1495+9024_1495+9025insCACCC
NM_133433.4:c.2246_2247insCACCC MANE Select	NP_597677.2:p.Gln749HisfsTer?
NM_015384.5:c.2246_2247insCACCC	NP_056199.2:p.Gln749HisfsTer?