Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064331_37064332dup , CM000667.2:g.37064331_37064332dup	GRCh38
NC_000005.9:g.37064433_37064434dup , CM000667.1:g.37064433_37064434dup	GRCh37
NC_000005.8:g.37100190_37100191dup	NCBI36
NG_006987.1:g.192449_192450dup
NG_006987.2:g.192449_192450dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-196_8050-195dup (NIPBL) MANE Select	ENSP00000282516.8:n.8050-196_8050-195dup
ENST00000652901.1:c.7944-196_7944-195dup (NIPBL)	ENSP00000499536.1:n.7944-196_7944-195dup
ENST00000282516.12:c.8050-196_8050-195dup (NIPBL)	ENSP00000282516.8:n.8050-196_8050-195dup
ENST00000514335.1:n.1973-196_1973-195dup (NIPBL)
ENST00000621733.1:c.1-247_1-246dup (NIPBL)	ENSP00000480694.1:n.1-247_1-246dup
NM_015384.4:c.308_309dup (NIPBL)	NP_056199.2:n.308_309dup
NM_133433.3:c.8050-196_8050-195dup (NIPBL)	NP_597677.2:n.8050-196_8050-195dup
XM_005248280.2:c.8091-196_8091-195dup (NIPBL)	XP_005248337.1:n.8091-196_8091-195dup
XM_005248282.3:c.7306-196_7306-195dup (NIPBL)	XP_005248339.2:n.7306-196_7306-195dup
XM_006714467.2:c.7903-196_7903-195dup (NIPBL)	XP_006714530.1:n.7903-196_7903-195dup
XM_006714468.1:c.7852-196_7852-195dup (NIPBL)	XP_006714531.1:n.7852-196_7852-195dup
XM_011514014.1:c.7669-196_7669-195dup (NIPBL)	XP_011512316.1:n.7669-196_7669-195dup
XM_005248280.3:c.8091-196_8091-195dup (NIPBL)	XP_005248337.1:n.8091-196_8091-195dup
XM_005248282.5:c.7390-196_7390-195dup (NIPBL)	XP_005248339.3:n.7390-196_7390-195dup
XM_006714468.2:c.7852-196_7852-195dup (NIPBL)	XP_006714531.1:n.7852-196_7852-195dup
XM_017009329.1:c.7944-196_7944-195dup (NIPBL)	XP_016864818.1:n.7944-196_7944-195dup
XM_017009330.2:c.6433-196_6433-195dup (NIPBL)	XP_016864819.1:n.6433-196_6433-195dup
XM_017009331.1:c.6424-196_6424-195dup (NIPBL)	XP_016864820.1:n.6424-196_6424-195dup
XR_925644.2:n.12350_12351dup (CPLANE1)
NM_133433.4:c.8050-196_8050-195dup (NIPBL) MANE Select	NP_597677.2:n.8050-196_8050-195dup
NM_015384.5:c.308_309dup (NIPBL)	NP_056199.2:n.308_309dup