Canonical Allele Identifier: CA2673553421

Gene: NIPBL

Linked Data

• gnomAD v4: 5-37020709-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020710_37020712del , CM000667.2:g.37020710_37020712del	GRCh38
NC_000005.9:g.37020812_37020814del , CM000667.1:g.37020812_37020814del	GRCh37
NC_000005.8:g.37056569_37056571del	NCBI36
NG_006987.1:g.148828_148830del
NG_006987.2:g.148828_148830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5225+37_5225+39del MANE Select	ENSP00000282516.8:n.5225+37_5225+39del
ENST00000652901.1:c.5225+37_5225+39del	ENSP00000499536.1:n.5225+37_5225+39del
ENST00000282516.12:c.5225+37_5225+39del	ENSP00000282516.8:n.5225+37_5225+39del
ENST00000448238.2:c.5225+37_5225+39del	ENSP00000406266.2:n.5225+37_5225+39del
ENST00000621733.1:c.1-43868_1-43866del	ENSP00000480694.1:n.1-43868_1-43866del
NM_015384.4:c.5225+37_5225+39del	NP_056199.2:n.5225+37_5225+39del
NM_133433.3:c.5225+37_5225+39del	NP_597677.2:n.5225+37_5225+39del
XM_005248280.2:c.5225+37_5225+39del	XP_005248337.1:n.5225+37_5225+39del
XM_005248282.3:c.4481+37_4481+39del	XP_005248339.2:n.4481+37_4481+39del
XM_006714467.2:c.5225+37_5225+39del	XP_006714530.1:n.5225+37_5225+39del
XM_006714468.1:c.5027+37_5027+39del	XP_006714531.1:n.5027+37_5027+39del
XM_011514014.1:c.4844+37_4844+39del	XP_011512316.1:n.4844+37_4844+39del
XM_011514015.1:c.5225+37_5225+39del	XP_011512317.1:n.5225+37_5225+39del
XM_005248280.3:c.5225+37_5225+39del	XP_005248337.1:n.5225+37_5225+39del
XM_005248282.5:c.4565+37_4565+39del	XP_005248339.3:n.4565+37_4565+39del
XM_006714468.2:c.5027+37_5027+39del	XP_006714531.1:n.5027+37_5027+39del
XM_017009329.1:c.5225+37_5225+39del	XP_016864818.1:n.5225+37_5225+39del
XM_017009330.2:c.3608+37_3608+39del	XP_016864819.1:n.3608+37_3608+39del
XM_017009331.1:c.3599+37_3599+39del	XP_016864820.1:n.3599+37_3599+39del
NM_133433.4:c.5225+37_5225+39del MANE Select	NP_597677.2:n.5225+37_5225+39del
NM_015384.5:c.5225+37_5225+39del	NP_056199.2:n.5225+37_5225+39del