Canonical Allele Identifier: CA2695204437

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038694_37038699del , CM000667.2:g.37038694_37038699del	GRCh38
NC_000005.9:g.37038796_37038801del , CM000667.1:g.37038796_37038801del	GRCh37
NC_000005.8:g.37074553_37074558del	NCBI36
NG_006987.1:g.166812_166817del
NG_006987.2:g.166812_166817del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6064_6069del MANE Select	ENSP00000282516.8:p.Lys2022_His2023del
ENST00000652901.1:c.6064_6069del	ENSP00000499536.1:p.Lys2022_His2023del
ENST00000282516.12:c.6064_6069del	ENSP00000282516.8:p.Lys2022_His2023del
ENST00000448238.2:c.6064_6069del	ENSP00000406266.2:p.Lys2022_His2023del
ENST00000621733.1:c.1-25884_1-25879del	ENSP00000480694.1:n.1-25884_1-25879del
NM_015384.4:c.6064_6069del	NP_056199.2:p.Lys2022_His2023del
NM_133433.3:c.6064_6069del	NP_597677.2:p.Lys2022_His2023del
XM_005248280.2:c.6064_6069del	XP_005248337.1:p.Lys2022_His2023del
XM_005248282.3:c.5320_5325del	XP_005248339.2:p.Lys1774_His1775del
XM_006714467.2:c.6064_6069del	XP_006714530.1:p.Lys2022_His2023del
XM_006714468.1:c.5866_5871del	XP_006714531.1:p.Lys1956_His1957del
XM_011514014.1:c.5683_5688del	XP_011512316.1:p.Lys1895_His1896del
XM_011514015.1:c.6064_6069del	XP_011512317.1:p.Lys2022_His2023del
XM_005248280.3:c.6064_6069del	XP_005248337.1:p.Lys2022_His2023del
XM_005248282.5:c.5404_5409del	XP_005248339.3:p.Lys1802_His1803del
XM_006714468.2:c.5866_5871del	XP_006714531.1:p.Lys1956_His1957del
XM_017009329.1:c.6064_6069del	XP_016864818.1:p.Lys2022_His2023del
XM_017009330.2:c.4447_4452del	XP_016864819.1:p.Lys1483_His1484del
XM_017009331.1:c.4438_4443del	XP_016864820.1:p.Lys1480_His1481del
NM_133433.4:c.6064_6069del MANE Select	NP_597677.2:p.Lys2022_His2023del
NM_015384.5:c.6064_6069del	NP_056199.2:p.Lys2022_His2023del