Canonical Allele Identifier: CA2673576521

Gene: NIPBL CPLANE1

Linked Data

• gnomAD v4: 5-37064302-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064305_37064307del , CM000667.2:g.37064305_37064307del	GRCh38
NC_000005.9:g.37064407_37064409del , CM000667.1:g.37064407_37064409del	GRCh37
NC_000005.8:g.37100164_37100166del	NCBI36
NG_006987.1:g.192423_192425del
NG_006987.2:g.192423_192425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-222_8050-220del (NIPBL) MANE Select	ENSP00000282516.8:n.8050-222_8050-220del
ENST00000652901.1:c.7944-222_7944-220del (NIPBL)	ENSP00000499536.1:n.7944-222_7944-220del
ENST00000282516.12:c.8050-222_8050-220del (NIPBL)	ENSP00000282516.8:n.8050-222_8050-220del
ENST00000514335.1:n.1973-222_1973-220del (NIPBL)
ENST00000621733.1:c.1-273_1-271del (NIPBL)	ENSP00000480694.1:n.1-273_1-271del
NM_015384.4:c.*282_*284del (NIPBL)	NP_056199.2:n.*282_*284del
NM_133433.3:c.8050-222_8050-220del (NIPBL)	NP_597677.2:n.8050-222_8050-220del
XM_005248280.2:c.8091-222_8091-220del (NIPBL)	XP_005248337.1:n.8091-222_8091-220del
XM_005248282.3:c.7306-222_7306-220del (NIPBL)	XP_005248339.2:n.7306-222_7306-220del
XM_006714467.2:c.7903-222_7903-220del (NIPBL)	XP_006714530.1:n.7903-222_7903-220del
XM_006714468.1:c.7852-222_7852-220del (NIPBL)	XP_006714531.1:n.7852-222_7852-220del
XM_011514014.1:c.7669-222_7669-220del (NIPBL)	XP_011512316.1:n.7669-222_7669-220del
XM_005248280.3:c.8091-222_8091-220del (NIPBL)	XP_005248337.1:n.8091-222_8091-220del
XM_005248282.5:c.7390-222_7390-220del (NIPBL)	XP_005248339.3:n.7390-222_7390-220del
XM_006714468.2:c.7852-222_7852-220del (NIPBL)	XP_006714531.1:n.7852-222_7852-220del
XM_017009329.1:c.7944-222_7944-220del (NIPBL)	XP_016864818.1:n.7944-222_7944-220del
XM_017009330.2:c.6433-222_6433-220del (NIPBL)	XP_016864819.1:n.6433-222_6433-220del
XM_017009331.1:c.6424-222_6424-220del (NIPBL)	XP_016864820.1:n.6424-222_6424-220del
XR_925644.2:n.12377_12379del (CPLANE1)
NM_133433.4:c.8050-222_8050-220del (NIPBL) MANE Select	NP_597677.2:n.8050-222_8050-220del
NM_015384.5:c.*282_*284del (NIPBL)	NP_056199.2:n.*282_*284del