Canonical Allele Identifier: CA1539589675

Gene: NIPBL CPLANE1

Linked Data

• dbSNP Id: rs1755161129
• gnomAD v4: 5-37064352-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064356_37064357del , CM000667.2:g.37064356_37064357del	GRCh38
NC_000005.9:g.37064458_37064459del , CM000667.1:g.37064458_37064459del	GRCh37
NC_000005.8:g.37100215_37100216del	NCBI36
NG_006987.1:g.192474_192475del
NG_006987.2:g.192474_192475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8050-171_8050-170del (NIPBL) MANE Select	ENSP00000282516.8:n.8050-171_8050-170del
ENST00000652901.1:c.7944-171_7944-170del (NIPBL)	ENSP00000499536.1:n.7944-171_7944-170del
ENST00000282516.12:c.8050-171_8050-170del (NIPBL)	ENSP00000282516.8:n.8050-171_8050-170del
ENST00000514335.1:n.1973-171_1973-170del (NIPBL)
ENST00000621733.1:c.1-222_1-221del (NIPBL)	ENSP00000480694.1:n.1-222_1-221del
NM_015384.4:c.*333_*334del (NIPBL)	NP_056199.2:n.*333_*334del
NM_133433.3:c.8050-171_8050-170del (NIPBL)	NP_597677.2:n.8050-171_8050-170del
XM_005248280.2:c.8091-171_8091-170del (NIPBL)	XP_005248337.1:n.8091-171_8091-170del
XM_005248282.3:c.7306-171_7306-170del (NIPBL)	XP_005248339.2:n.7306-171_7306-170del
XM_006714467.2:c.7903-171_7903-170del (NIPBL)	XP_006714530.1:n.7903-171_7903-170del
XM_006714468.1:c.7852-171_7852-170del (NIPBL)	XP_006714531.1:n.7852-171_7852-170del
XM_011514014.1:c.7669-171_7669-170del (NIPBL)	XP_011512316.1:n.7669-171_7669-170del
XM_005248280.3:c.8091-171_8091-170del (NIPBL)	XP_005248337.1:n.8091-171_8091-170del
XM_005248282.5:c.7390-171_7390-170del (NIPBL)	XP_005248339.3:n.7390-171_7390-170del
XM_006714468.2:c.7852-171_7852-170del (NIPBL)	XP_006714531.1:n.7852-171_7852-170del
XM_017009329.1:c.7944-171_7944-170del (NIPBL)	XP_016864818.1:n.7944-171_7944-170del
XM_017009330.2:c.6433-171_6433-170del (NIPBL)	XP_016864819.1:n.6433-171_6433-170del
XM_017009331.1:c.6424-171_6424-170del (NIPBL)	XP_016864820.1:n.6424-171_6424-170del
XR_925644.2:n.12328_12329del (CPLANE1)
NM_133433.4:c.8050-171_8050-170del (NIPBL) MANE Select	NP_597677.2:n.8050-171_8050-170del
NM_015384.5:c.*333_*334del (NIPBL)	NP_056199.2:n.*333_*334del