Canonical Allele Identifier: CA2580613545

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 1735173
• ClinVar RCV Id: RCV002355260

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37003305_37003307del , CM000667.2:g.37003305_37003307del	GRCh38
NC_000005.9:g.37003407_37003409del , CM000667.1:g.37003407_37003409del	GRCh37
NC_000005.8:g.37039164_37039166del	NCBI36
NG_006987.1:g.131423_131425del
NG_006987.2:g.131423_131425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3813_3815del MANE Select	ENSP00000282516.8:p.Lys1271del
ENST00000652901.1:c.3813_3815del	ENSP00000499536.1:p.Lys1271del
ENST00000282516.12:c.3813_3815del	ENSP00000282516.8:p.Lys1271del
ENST00000448238.2:c.3813_3815del	ENSP00000406266.2:p.Lys1271del
ENST00000621733.1:c.1-61273_1-61271del	ENSP00000480694.1:n.1-61273_1-61271del
NM_015384.4:c.3813_3815del	NP_056199.2:p.Lys1271del
NM_133433.3:c.3813_3815del	NP_597677.2:p.Lys1271del
XM_005248280.2:c.3813_3815del	XP_005248337.1:p.Lys1271del
XM_005248282.3:c.3069_3071del	XP_005248339.2:p.Lys1023del
XM_006714467.2:c.3813_3815del	XP_006714530.1:p.Lys1271del
XM_006714468.1:c.3615_3617del	XP_006714531.1:p.Lys1205del
XM_011514014.1:c.3432_3434del	XP_011512316.1:p.Lys1144del
XM_011514015.1:c.3813_3815del	XP_011512317.1:p.Lys1271del
XM_005248280.3:c.3813_3815del	XP_005248337.1:p.Lys1271del
XM_005248282.5:c.3153_3155del	XP_005248339.3:p.Lys1051del
XM_006714468.2:c.3615_3617del	XP_006714531.1:p.Lys1205del
XM_017009329.1:c.3813_3815del	XP_016864818.1:p.Lys1271del
XM_017009330.2:c.2196_2198del	XP_016864819.1:p.Lys732del
XM_017009331.1:c.2187_2189del	XP_016864820.1:p.Lys729del
NM_133433.4:c.3813_3815del MANE Select	NP_597677.2:p.Lys1271del
NM_015384.5:c.3813_3815del	NP_056199.2:p.Lys1271del