Canonical Allele Identifier: CA2840195425

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045592_37045607del , CM000667.2:g.37045592_37045607del	GRCh38
NC_000005.9:g.37045694_37045709del , CM000667.1:g.37045694_37045709del	GRCh37
NC_000005.8:g.37081451_37081466del	NCBI36
NG_006987.1:g.173710_173725del
NG_006987.2:g.173710_173725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6493_6498+10del
ENST00000652901.1:c.6493_6498+10del
ENST00000282516.12:c.6493_6498+10del
ENST00000448238.2:c.6493_6498+10del
ENST00000621733.1:c.1-18986_1-18971del	ENSP00000480694.1:n.1-18986_1-18971del
NM_015384.4:c.6493_6498+10del
NM_133433.3:c.6493_6498+10del
XM_005248280.2:c.6493_6498+10del
XM_005248282.3:c.5749_5754+10del
XM_006714467.2:c.6493_6498+10del
XM_006714468.1:c.6295_6300+10del
XM_011514014.1:c.6112_6117+10del
XM_011514015.1:c.6493_6498+10del
XM_005248280.3:c.6493_6498+10del
XM_005248282.5:c.5833_5838+10del
XM_006714468.2:c.6295_6300+10del
XM_017009329.1:c.6493_6498+10del
XM_017009330.2:c.4876_4881+10del
XM_017009331.1:c.4867_4872+10del
NM_133433.4:c.6493_6498+10del
NM_015384.5:c.6493_6498+10del