Canonical Allele Identifier: CA1539592936

Gene: NIPBL

Linked Data

• dbSNP Id: rs1746075083

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995780_36995782del , CM000667.2:g.36995780_36995782del	GRCh38
NC_000005.9:g.36995882_36995884del , CM000667.1:g.36995882_36995884del	GRCh37
NC_000005.8:g.37031639_37031641del	NCBI36
NG_006987.1:g.123898_123900del
NG_006987.2:g.123898_123900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3280_3282del MANE Select	ENSP00000282516.8:p.Asn1094del
ENST00000652901.1:c.3280_3282del	ENSP00000499536.1:p.Asn1094del
ENST00000282516.12:c.3280_3282del	ENSP00000282516.8:p.Asn1094del
ENST00000448238.2:c.3280_3282del	ENSP00000406266.2:p.Asn1094del
ENST00000503274.1:n.631_633del
ENST00000504430.5:n.2900_2902del
ENST00000509429.1:n.31_33del
ENST00000621733.1:c.1-68798_1-68796del	ENSP00000480694.1:n.1-68798_1-68796del
NM_015384.4:c.3280_3282del	NP_056199.2:p.Asn1094del
NM_133433.3:c.3280_3282del	NP_597677.2:p.Asn1094del
XM_005248280.2:c.3280_3282del	XP_005248337.1:p.Asn1094del
XM_005248282.3:c.2536_2538del	XP_005248339.2:p.Asn846del
XM_006714467.2:c.3280_3282del	XP_006714530.1:p.Asn1094del
XM_006714468.1:c.3280_3282del	XP_006714531.1:p.Asn1094del
XM_011514014.1:c.3122-5037_3122-5035del	XP_011512316.1:n.3122-5037_3122-5035del
XM_011514015.1:c.3280_3282del	XP_011512317.1:p.Asn1094del
XM_005248280.3:c.3280_3282del	XP_005248337.1:p.Asn1094del
XM_005248282.5:c.2620_2622del	XP_005248339.3:p.Asn874del
XM_006714468.2:c.3280_3282del	XP_006714531.1:p.Asn1094del
XM_017009329.1:c.3280_3282del	XP_016864818.1:p.Asn1094del
XM_017009330.2:c.1663_1665del	XP_016864819.1:p.Asn555del
XM_017009331.1:c.1654_1656del	XP_016864820.1:p.Asn552del
NM_133433.4:c.3280_3282del MANE Select	NP_597677.2:p.Asn1094del
NM_015384.5:c.3280_3282del	NP_056199.2:p.Asn1094del