Canonical Allele Identifier: CA2673581623

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37045426-TTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045428_37045430del , CM000667.2:g.37045428_37045430del	GRCh38
NC_000005.9:g.37045530_37045532del , CM000667.1:g.37045530_37045532del	GRCh37
NC_000005.8:g.37081287_37081289del	NCBI36
NG_006987.1:g.173546_173548del
NG_006987.2:g.173546_173548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6344-15_6344-13del MANE Select	ENSP00000282516.8:n.6344-15_6344-13del
ENST00000652901.1:c.6344-15_6344-13del	ENSP00000499536.1:n.6344-15_6344-13del
ENST00000282516.12:c.6344-15_6344-13del	ENSP00000282516.8:n.6344-15_6344-13del
ENST00000448238.2:c.6344-15_6344-13del	ENSP00000406266.2:n.6344-15_6344-13del
ENST00000621733.1:c.1-19150_1-19148del	ENSP00000480694.1:n.1-19150_1-19148del
NM_015384.4:c.6344-15_6344-13del	NP_056199.2:n.6344-15_6344-13del
NM_133433.3:c.6344-15_6344-13del	NP_597677.2:n.6344-15_6344-13del
XM_005248280.2:c.6344-15_6344-13del	XP_005248337.1:n.6344-15_6344-13del
XM_005248282.3:c.5600-15_5600-13del	XP_005248339.2:n.5600-15_5600-13del
XM_006714467.2:c.6344-15_6344-13del	XP_006714530.1:n.6344-15_6344-13del
XM_006714468.1:c.6146-15_6146-13del	XP_006714531.1:n.6146-15_6146-13del
XM_011514014.1:c.5963-15_5963-13del	XP_011512316.1:n.5963-15_5963-13del
XM_011514015.1:c.6344-15_6344-13del	XP_011512317.1:n.6344-15_6344-13del
XM_005248280.3:c.6344-15_6344-13del	XP_005248337.1:n.6344-15_6344-13del
XM_005248282.5:c.5684-15_5684-13del	XP_005248339.3:n.5684-15_5684-13del
XM_006714468.2:c.6146-15_6146-13del	XP_006714531.1:n.6146-15_6146-13del
XM_017009329.1:c.6344-15_6344-13del	XP_016864818.1:n.6344-15_6344-13del
XM_017009330.2:c.4727-15_4727-13del	XP_016864819.1:n.4727-15_4727-13del
XM_017009331.1:c.4718-15_4718-13del	XP_016864820.1:n.4718-15_4718-13del
NM_133433.4:c.6344-15_6344-13del MANE Select	NP_597677.2:n.6344-15_6344-13del
NM_015384.5:c.6344-15_6344-13del	NP_056199.2:n.6344-15_6344-13del