Canonical Allele Identifier: CA2673574679

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37000296-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000297_37000298del , CM000667.2:g.37000297_37000298del	GRCh38
NC_000005.9:g.37000399_37000400del , CM000667.1:g.37000399_37000400del	GRCh37
NC_000005.8:g.37036156_37036157del	NCBI36
NG_006987.1:g.128415_128416del
NG_006987.2:g.128415_128416del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3305-76_3305-75del MANE Select	ENSP00000282516.8:n.3305-76_3305-75del
ENST00000652901.1:c.3305-76_3305-75del	ENSP00000499536.1:n.3305-76_3305-75del
ENST00000282516.12:c.3305-76_3305-75del	ENSP00000282516.8:n.3305-76_3305-75del
ENST00000448238.2:c.3305-76_3305-75del	ENSP00000406266.2:n.3305-76_3305-75del
ENST00000503274.1:n.656-76_656-75del
ENST00000621733.1:c.1-64281_1-64280del	ENSP00000480694.1:n.1-64281_1-64280del
NM_015384.4:c.3305-76_3305-75del	NP_056199.2:n.3305-76_3305-75del
NM_133433.3:c.3305-76_3305-75del	NP_597677.2:n.3305-76_3305-75del
XM_005248280.2:c.3305-76_3305-75del	XP_005248337.1:n.3305-76_3305-75del
XM_005248282.3:c.2561-76_2561-75del	XP_005248339.2:n.2561-76_2561-75del
XM_006714467.2:c.3305-76_3305-75del	XP_006714530.1:n.3305-76_3305-75del
XM_006714468.1:c.3305-520_3305-519del	XP_006714531.1:n.3305-520_3305-519del
XM_011514014.1:c.3122-520_3122-519del	XP_011512316.1:n.3122-520_3122-519del
XM_011514015.1:c.3305-76_3305-75del	XP_011512317.1:n.3305-76_3305-75del
XM_005248280.3:c.3305-76_3305-75del	XP_005248337.1:n.3305-76_3305-75del
XM_005248282.5:c.2645-76_2645-75del	XP_005248339.3:n.2645-76_2645-75del
XM_006714468.2:c.3305-520_3305-519del	XP_006714531.1:n.3305-520_3305-519del
XM_017009329.1:c.3305-76_3305-75del	XP_016864818.1:n.3305-76_3305-75del
XM_017009330.2:c.1688-76_1688-75del	XP_016864819.1:n.1688-76_1688-75del
XM_017009331.1:c.1679-76_1679-75del	XP_016864820.1:n.1679-76_1679-75del
NM_133433.4:c.3305-76_3305-75del MANE Select	NP_597677.2:n.3305-76_3305-75del
NM_015384.5:c.3305-76_3305-75del	NP_056199.2:n.3305-76_3305-75del