Canonical Allele Identifier: CA1075097119

Gene: NIPBL

Linked Data

• gnomAD v3: 5-37045351-CAA-C
• gnomAD v4: 5-37045351-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045360_37045361del , CM000667.2:g.37045360_37045361del	GRCh38
NC_000005.9:g.37045462_37045463del , CM000667.1:g.37045462_37045463del	GRCh37
NC_000005.8:g.37081219_37081220del	NCBI36
NG_006987.1:g.173478_173479del
NG_006987.2:g.173478_173479del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6344-83_6344-82del MANE Select	ENSP00000282516.8:n.6344-83_6344-82del
ENST00000652901.1:c.6344-83_6344-82del	ENSP00000499536.1:n.6344-83_6344-82del
ENST00000282516.12:c.6344-83_6344-82del	ENSP00000282516.8:n.6344-83_6344-82del
ENST00000448238.2:c.6344-83_6344-82del	ENSP00000406266.2:n.6344-83_6344-82del
ENST00000621733.1:c.1-19218_1-19217del	ENSP00000480694.1:n.1-19218_1-19217del
NM_015384.4:c.6344-83_6344-82del	NP_056199.2:n.6344-83_6344-82del
NM_133433.3:c.6344-83_6344-82del	NP_597677.2:n.6344-83_6344-82del
XM_005248280.2:c.6344-83_6344-82del	XP_005248337.1:n.6344-83_6344-82del
XM_005248282.3:c.5600-83_5600-82del	XP_005248339.2:n.5600-83_5600-82del
XM_006714467.2:c.6344-83_6344-82del	XP_006714530.1:n.6344-83_6344-82del
XM_006714468.1:c.6146-83_6146-82del	XP_006714531.1:n.6146-83_6146-82del
XM_011514014.1:c.5963-83_5963-82del	XP_011512316.1:n.5963-83_5963-82del
XM_011514015.1:c.6344-83_6344-82del	XP_011512317.1:n.6344-83_6344-82del
XM_005248280.3:c.6344-83_6344-82del	XP_005248337.1:n.6344-83_6344-82del
XM_005248282.5:c.5684-83_5684-82del	XP_005248339.3:n.5684-83_5684-82del
XM_006714468.2:c.6146-83_6146-82del	XP_006714531.1:n.6146-83_6146-82del
XM_017009329.1:c.6344-83_6344-82del	XP_016864818.1:n.6344-83_6344-82del
XM_017009330.2:c.4727-83_4727-82del	XP_016864819.1:n.4727-83_4727-82del
XM_017009331.1:c.4718-83_4718-82del	XP_016864820.1:n.4718-83_4718-82del
NM_133433.4:c.6344-83_6344-82del MANE Select	NP_597677.2:n.6344-83_6344-82del
NM_015384.5:c.6344-83_6344-82del	NP_056199.2:n.6344-83_6344-82del