Canonical Allele Identifier: CA1539611689

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038822_37038826delinsTCTCA , CM000667.2:g.37038822_37038826delinsTCTCA	GRCh38
NC_000005.9:g.37038924_37038928delinsTCTCA , CM000667.1:g.37038924_37038928delinsTCTCA	GRCh37
NC_000005.8:g.37074681_37074685delinsTCTCA	NCBI36
NG_006987.1:g.166940_166944delinsTCTCA
NG_006987.2:g.166940_166944delinsTCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6108+84_6108+88delinsTCTCA MANE Select	ENSP00000282516.8:n.6108+84_6108+88delinsTCTCA
ENST00000652901.1:c.6108+84_6108+88delinsTCTCA	ENSP00000499536.1:n.6108+84_6108+88delinsTCTCA
ENST00000282516.12:c.6108+84_6108+88delinsTCTCA	ENSP00000282516.8:n.6108+84_6108+88delinsTCTCA
ENST00000448238.2:c.6108+84_6108+88delinsTCTCA	ENSP00000406266.2:n.6108+84_6108+88delinsTCTCA
ENST00000621733.1:c.1-25756_1-25752delinsTCTCA	ENSP00000480694.1:n.1-25756_1-25752delinsTCTCA
NM_015384.4:c.6108+84_6108+88delinsTCTCA	NP_056199.2:n.6108+84_6108+88delinsTCTCA
NM_133433.3:c.6108+84_6108+88delinsTCTCA	NP_597677.2:n.6108+84_6108+88delinsTCTCA
XM_005248280.2:c.6108+84_6108+88delinsTCTCA	XP_005248337.1:n.6108+84_6108+88delinsTCTCA
XM_005248282.3:c.5364+84_5364+88delinsTCTCA	XP_005248339.2:n.5364+84_5364+88delinsTCTCA
XM_006714467.2:c.6108+84_6108+88delinsTCTCA	XP_006714530.1:n.6108+84_6108+88delinsTCTCA
XM_006714468.1:c.5910+84_5910+88delinsTCTCA	XP_006714531.1:n.5910+84_5910+88delinsTCTCA
XM_011514014.1:c.5727+84_5727+88delinsTCTCA	XP_011512316.1:n.5727+84_5727+88delinsTCTCA
XM_011514015.1:c.6108+84_6108+88delinsTCTCA	XP_011512317.1:n.6108+84_6108+88delinsTCTCA
XM_005248280.3:c.6108+84_6108+88delinsTCTCA	XP_005248337.1:n.6108+84_6108+88delinsTCTCA
XM_005248282.5:c.5448+84_5448+88delinsTCTCA	XP_005248339.3:n.5448+84_5448+88delinsTCTCA
XM_006714468.2:c.5910+84_5910+88delinsTCTCA	XP_006714531.1:n.5910+84_5910+88delinsTCTCA
XM_017009329.1:c.6108+84_6108+88delinsTCTCA	XP_016864818.1:n.6108+84_6108+88delinsTCTCA
XM_017009330.2:c.4491+84_4491+88delinsTCTCA	XP_016864819.1:n.4491+84_4491+88delinsTCTCA
XM_017009331.1:c.4482+84_4482+88delinsTCTCA	XP_016864820.1:n.4482+84_4482+88delinsTCTCA
NM_133433.4:c.6108+84_6108+88delinsTCTCA MANE Select	NP_597677.2:n.6108+84_6108+88delinsTCTCA
NM_015384.5:c.6108+84_6108+88delinsTCTCA	NP_056199.2:n.6108+84_6108+88delinsTCTCA