Canonical Allele Identifier: CA2673577324

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37038835-TCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038837_37038839del , CM000667.2:g.37038837_37038839del	GRCh38
NC_000005.9:g.37038939_37038941del , CM000667.1:g.37038939_37038941del	GRCh37
NC_000005.8:g.37074696_37074698del	NCBI36
NG_006987.1:g.166955_166957del
NG_006987.2:g.166955_166957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6108+99_6108+101del MANE Select	ENSP00000282516.8:n.6108+99_6108+101del
ENST00000652901.1:c.6108+99_6108+101del	ENSP00000499536.1:n.6108+99_6108+101del
ENST00000282516.12:c.6108+99_6108+101del	ENSP00000282516.8:n.6108+99_6108+101del
ENST00000448238.2:c.6108+99_6108+101del	ENSP00000406266.2:n.6108+99_6108+101del
ENST00000621733.1:c.1-25741_1-25739del	ENSP00000480694.1:n.1-25741_1-25739del
NM_015384.4:c.6108+99_6108+101del	NP_056199.2:n.6108+99_6108+101del
NM_133433.3:c.6108+99_6108+101del	NP_597677.2:n.6108+99_6108+101del
XM_005248280.2:c.6108+99_6108+101del	XP_005248337.1:n.6108+99_6108+101del
XM_005248282.3:c.5364+99_5364+101del	XP_005248339.2:n.5364+99_5364+101del
XM_006714467.2:c.6108+99_6108+101del	XP_006714530.1:n.6108+99_6108+101del
XM_006714468.1:c.5910+99_5910+101del	XP_006714531.1:n.5910+99_5910+101del
XM_011514014.1:c.5727+99_5727+101del	XP_011512316.1:n.5727+99_5727+101del
XM_011514015.1:c.6108+99_6108+101del	XP_011512317.1:n.6108+99_6108+101del
XM_005248280.3:c.6108+99_6108+101del	XP_005248337.1:n.6108+99_6108+101del
XM_005248282.5:c.5448+99_5448+101del	XP_005248339.3:n.5448+99_5448+101del
XM_006714468.2:c.5910+99_5910+101del	XP_006714531.1:n.5910+99_5910+101del
XM_017009329.1:c.6108+99_6108+101del	XP_016864818.1:n.6108+99_6108+101del
XM_017009330.2:c.4491+99_4491+101del	XP_016864819.1:n.4491+99_4491+101del
XM_017009331.1:c.4482+99_4482+101del	XP_016864820.1:n.4482+99_4482+101del
NM_133433.4:c.6108+99_6108+101del MANE Select	NP_597677.2:n.6108+99_6108+101del
NM_015384.5:c.6108+99_6108+101del	NP_056199.2:n.6108+99_6108+101del