Canonical Allele Identifier: CA2673553409

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37020698-TACATTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020699_37020705del , CM000667.2:g.37020699_37020705del	GRCh38
NC_000005.9:g.37020801_37020807del , CM000667.1:g.37020801_37020807del	GRCh37
NC_000005.8:g.37056558_37056564del	NCBI36
NG_006987.1:g.148817_148823del
NG_006987.2:g.148817_148823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5225+26_5225+32del MANE Select	ENSP00000282516.8:n.5225+26_5225+32del
ENST00000652901.1:c.5225+26_5225+32del	ENSP00000499536.1:n.5225+26_5225+32del
ENST00000282516.12:c.5225+26_5225+32del	ENSP00000282516.8:n.5225+26_5225+32del
ENST00000448238.2:c.5225+26_5225+32del	ENSP00000406266.2:n.5225+26_5225+32del
ENST00000621733.1:c.1-43879_1-43873del	ENSP00000480694.1:n.1-43879_1-43873del
NM_015384.4:c.5225+26_5225+32del	NP_056199.2:n.5225+26_5225+32del
NM_133433.3:c.5225+26_5225+32del	NP_597677.2:n.5225+26_5225+32del
XM_005248280.2:c.5225+26_5225+32del	XP_005248337.1:n.5225+26_5225+32del
XM_005248282.3:c.4481+26_4481+32del	XP_005248339.2:n.4481+26_4481+32del
XM_006714467.2:c.5225+26_5225+32del	XP_006714530.1:n.5225+26_5225+32del
XM_006714468.1:c.5027+26_5027+32del	XP_006714531.1:n.5027+26_5027+32del
XM_011514014.1:c.4844+26_4844+32del	XP_011512316.1:n.4844+26_4844+32del
XM_011514015.1:c.5225+26_5225+32del	XP_011512317.1:n.5225+26_5225+32del
XM_005248280.3:c.5225+26_5225+32del	XP_005248337.1:n.5225+26_5225+32del
XM_005248282.5:c.4565+26_4565+32del	XP_005248339.3:n.4565+26_4565+32del
XM_006714468.2:c.5027+26_5027+32del	XP_006714531.1:n.5027+26_5027+32del
XM_017009329.1:c.5225+26_5225+32del	XP_016864818.1:n.5225+26_5225+32del
XM_017009330.2:c.3608+26_3608+32del	XP_016864819.1:n.3608+26_3608+32del
XM_017009331.1:c.3599+26_3599+32del	XP_016864820.1:n.3599+26_3599+32del
NM_133433.4:c.5225+26_5225+32del MANE Select	NP_597677.2:n.5225+26_5225+32del
NM_015384.5:c.5225+26_5225+32del	NP_056199.2:n.5225+26_5225+32del