Canonical Allele Identifier: CA1539618615

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045594_37045600delinsCAAGGTA , CM000667.2:g.37045594_37045600delinsCAAGGTA	GRCh38
NC_000005.9:g.37045696_37045702delinsCAAGGTA , CM000667.1:g.37045696_37045702delinsCAAGGTA	GRCh37
NC_000005.8:g.37081453_37081459delinsCAAGGTA	NCBI36
NG_006987.1:g.173712_173718delinsCAAGGTA
NG_006987.2:g.173712_173718delinsCAAGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6495_6498+3delinsCAAGGTA
ENST00000652901.1:c.6495_6498+3delinsCAAGGTA
ENST00000282516.12:c.6495_6498+3delinsCAAGGTA
ENST00000448238.2:c.6495_6498+3delinsCAAGGTA
ENST00000621733.1:c.1-18984_1-18978delinsCAAGGTA	ENSP00000480694.1:n.1-18984_1-18978delinsCAAGGTA
NM_015384.4:c.6495_6498+3delinsCAAGGTA
NM_133433.3:c.6495_6498+3delinsCAAGGTA
XM_005248280.2:c.6495_6498+3delinsCAAGGTA
XM_005248282.3:c.5751_5754+3delinsCAAGGTA
XM_006714467.2:c.6495_6498+3delinsCAAGGTA
XM_006714468.1:c.6297_6300+3delinsCAAGGTA
XM_011514014.1:c.6114_6117+3delinsCAAGGTA
XM_011514015.1:c.6495_6498+3delinsCAAGGTA
XM_005248280.3:c.6495_6498+3delinsCAAGGTA
XM_005248282.5:c.5835_5838+3delinsCAAGGTA
XM_006714468.2:c.6297_6300+3delinsCAAGGTA
XM_017009329.1:c.6495_6498+3delinsCAAGGTA
XM_017009330.2:c.4878_4881+3delinsCAAGGTA
XM_017009331.1:c.4869_4872+3delinsCAAGGTA
NM_133433.4:c.6495_6498+3delinsCAAGGTA
NM_015384.5:c.6495_6498+3delinsCAAGGTA