Canonical Allele Identifier: CA2765910819

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045487_37045488insCACCCAAC , CM000667.2:g.37045487_37045488insCACCCAAC	GRCh38
NC_000005.9:g.37045589_37045590insCACCCAAC , CM000667.1:g.37045589_37045590insCACCCAAC	GRCh37
NC_000005.8:g.37081346_37081347insCACCCAAC	NCBI36
NG_006987.1:g.173605_173606insCACCCAAC
NG_006987.2:g.173605_173606insCACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6388_6389insCACCCAAC MANE Select	ENSP00000282516.8:p.Asn2130ThrfsTer8
ENST00000652901.1:c.6388_6389insCACCCAAC	ENSP00000499536.1:p.Asn2130ThrfsTer8
ENST00000282516.12:c.6388_6389insCACCCAAC	ENSP00000282516.8:p.Asn2130ThrfsTer8
ENST00000448238.2:c.6388_6389insCACCCAAC	ENSP00000406266.2:p.Asn2130ThrfsTer8
ENST00000621733.1:c.1-19091_1-19090insCACCCAAC	ENSP00000480694.1:n.1-19091_1-19090insCACCCAAC
NM_015384.4:c.6388_6389insCACCCAAC	NP_056199.2:p.Asn2130ThrfsTer8
NM_133433.3:c.6388_6389insCACCCAAC	NP_597677.2:p.Asn2130ThrfsTer8
XM_005248280.2:c.6388_6389insCACCCAAC	XP_005248337.1:p.Asn2130ThrfsTer8
XM_005248282.3:c.5644_5645insCACCCAAC	XP_005248339.2:p.Asn1882ThrfsTer8
XM_006714467.2:c.6388_6389insCACCCAAC	XP_006714530.1:p.Asn2130ThrfsTer8
XM_006714468.1:c.6190_6191insCACCCAAC	XP_006714531.1:p.Asn2064ThrfsTer8
XM_011514014.1:c.6007_6008insCACCCAAC	XP_011512316.1:p.Asn2003ThrfsTer8
XM_011514015.1:c.6388_6389insCACCCAAC	XP_011512317.1:p.Asn2130ThrfsTer8
XM_005248280.3:c.6388_6389insCACCCAAC	XP_005248337.1:p.Asn2130ThrfsTer8
XM_005248282.5:c.5728_5729insCACCCAAC	XP_005248339.3:p.Asn1910ThrfsTer8
XM_006714468.2:c.6190_6191insCACCCAAC	XP_006714531.1:p.Asn2064ThrfsTer8
XM_017009329.1:c.6388_6389insCACCCAAC	XP_016864818.1:p.Asn2130ThrfsTer8
XM_017009330.2:c.4771_4772insCACCCAAC	XP_016864819.1:p.Asn1591ThrfsTer8
XM_017009331.1:c.4762_4763insCACCCAAC	XP_016864820.1:p.Asn1588ThrfsTer8
NM_133433.4:c.6388_6389insCACCCAAC MANE Select	NP_597677.2:p.Asn2130ThrfsTer8
NM_015384.5:c.6388_6389insCACCCAAC	NP_056199.2:p.Asn2130ThrfsTer8