Canonical Allele Identifier: CA272322

Gene: NIPBL CPLANE1

Linked Data

• ClinVar Variation Id: 159241
• ClinVar RCV Id: RCV000146737
• dbSNP Id: rs587784052
• MyVariant Identifiers: chr5:g.37064744_37064762del (hg19) ; chr5:g.37064642_37064660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37064642_37064660del , CM000667.2:g.37064642_37064660del	GRCh38
NC_000005.9:g.37064744_37064762del , CM000667.1:g.37064744_37064762del	GRCh37
NC_000005.8:g.37100501_37100519del	NCBI36
NG_006987.1:g.192760_192778del
NG_006987.2:g.192760_192778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.8165_8183del (NIPBL) MANE Select	ENSP00000282516.8:p.Pro2722ArgfsTer?
ENST00000652901.1:c.*109_*127del (NIPBL)	ENSP00000499536.1:n.*109_*127del
ENST00000282516.12:c.8165_8183del (NIPBL)	ENSP00000282516.8:p.Pro2722ArgfsTer?
ENST00000514335.1:n.2088_2106del (NIPBL)
ENST00000621733.1:c.65_83del (NIPBL)	ENSP00000480694.1:p.Pro22ArgfsTer?
NM_015384.4:c.*619_*637del (NIPBL)	NP_056199.2:n.*619_*637del
NM_133433.3:c.8165_8183del (NIPBL)	NP_597677.2:p.Pro2722ArgfsTer?
XM_005248280.2:c.*109_*127del (NIPBL)	XP_005248337.1:n.*109_*127del
XM_005248282.3:c.7421_7439del (NIPBL)	XP_005248339.2:p.Pro2474ArgfsTer?
XM_006714467.2:c.8018_8036del (NIPBL)	XP_006714530.1:p.Pro2673ArgfsTer?
XM_006714468.1:c.7967_7985del (NIPBL)	XP_006714531.1:p.Pro2656ArgfsTer?
XM_011514014.1:c.7784_7802del (NIPBL)	XP_011512316.1:p.Pro2595ArgfsTer?
XM_005248280.3:c.*109_*127del (NIPBL)	XP_005248337.1:n.*109_*127del
XM_005248282.5:c.7505_7523del (NIPBL)	XP_005248339.3:p.Pro2502ArgfsTer?
XM_006714468.2:c.7967_7985del (NIPBL)	XP_006714531.1:p.Pro2656ArgfsTer?
XM_017009329.1:c.*109_*127del (NIPBL)	XP_016864818.1:n.*109_*127del
XM_017009330.2:c.6548_6566del (NIPBL)	XP_016864819.1:p.Pro2183ArgfsTer?
XM_017009331.1:c.6539_6557del (NIPBL)	XP_016864820.1:p.Pro2180ArgfsTer?
XR_925644.2:n.12022_12040del (CPLANE1)
NM_133433.4:c.8165_8183del (NIPBL) MANE Select	NP_597677.2:p.Pro2722ArgfsTer?
NM_015384.5:c.*619_*637del (NIPBL)	NP_056199.2:n.*619_*637del