Canonical Allele Identifier: CA1539589752

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755170686

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064394_37064395del , CM000667.2:g.37064394_37064395del	GRCh38
NC_000005.9:g.37064496_37064497del , CM000667.1:g.37064496_37064497del	GRCh37
NC_000005.8:g.37100253_37100254del	NCBI36
NG_006987.1:g.192512_192513del
NG_006987.2:g.192512_192513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-133_8050-132del (NIPBL) MANE Select	ENSP00000282516.8:n.8050-133_8050-132del
ENST00000652901.1:c.7944-133_7944-132del (NIPBL)	ENSP00000499536.1:n.7944-133_7944-132del
ENST00000282516.12:c.8050-133_8050-132del (NIPBL)	ENSP00000282516.8:n.8050-133_8050-132del
ENST00000514335.1:n.1973-133_1973-132del (NIPBL)
ENST00000621733.1:c.1-184_1-183del (NIPBL)	ENSP00000480694.1:n.1-184_1-183del
NM_015384.4:c.*371_*372del (NIPBL)	NP_056199.2:n.*371_*372del
NM_133433.3:c.8050-133_8050-132del (NIPBL)	NP_597677.2:n.8050-133_8050-132del
XM_005248280.2:c.8091-133_8091-132del (NIPBL)	XP_005248337.1:n.8091-133_8091-132del
XM_005248282.3:c.7306-133_7306-132del (NIPBL)	XP_005248339.2:n.7306-133_7306-132del
XM_006714467.2:c.7903-133_7903-132del (NIPBL)	XP_006714530.1:n.7903-133_7903-132del
XM_006714468.1:c.7852-133_7852-132del (NIPBL)	XP_006714531.1:n.7852-133_7852-132del
XM_011514014.1:c.7669-133_7669-132del (NIPBL)	XP_011512316.1:n.7669-133_7669-132del
XM_005248280.3:c.8091-133_8091-132del (NIPBL)	XP_005248337.1:n.8091-133_8091-132del
XM_005248282.5:c.7390-133_7390-132del (NIPBL)	XP_005248339.3:n.7390-133_7390-132del
XM_006714468.2:c.7852-133_7852-132del (NIPBL)	XP_006714531.1:n.7852-133_7852-132del
XM_017009329.1:c.7944-133_7944-132del (NIPBL)	XP_016864818.1:n.7944-133_7944-132del
XM_017009330.2:c.6433-133_6433-132del (NIPBL)	XP_016864819.1:n.6433-133_6433-132del
XM_017009331.1:c.6424-133_6424-132del (NIPBL)	XP_016864820.1:n.6424-133_6424-132del
XR_925644.2:n.12287_12288del (CPLANE1)
NM_133433.4:c.8050-133_8050-132del (NIPBL) MANE Select	NP_597677.2:n.8050-133_8050-132del
NM_015384.5:c.*371_*372del (NIPBL)	NP_056199.2:n.*371_*372del