Canonical Allele Identifier: CA276992

Gene: NIPBL

Linked Data

• ClinVar Variation Id: 211625
• ClinVar RCV Id: RCV000192596
• dbSNP Id: rs797045749
• MyVariant Identifiers: chr5:g.36955721_36955722dupAG (hg19) ; chr5:g.36955619_36955620dupAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36955619_36955620dup , CM000667.2:g.36955619_36955620dup	GRCh38
NC_000005.9:g.36955721_36955722dup , CM000667.1:g.36955721_36955722dup	GRCh37
NC_000005.8:g.36991478_36991479dup	NCBI36
NG_006987.1:g.83737_83738dup
NG_006987.2:g.83737_83738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.212_213dup MANE Select	ENSP00000282516.8:p.Val72ArgfsTer7
ENST00000652901.1:c.212_213dup	ENSP00000499536.1:p.Val72ArgfsTer7
ENST00000282516.12:c.212_213dup	ENSP00000282516.8:p.Val72ArgfsTer7
ENST00000448238.2:c.212_213dup	ENSP00000406266.2:p.Val72ArgfsTer7
ENST00000505998.5:n.191_192dup
ENST00000621733.1:c.-1+78597_-1+78598dup	ENSP00000480694.1:n.-1+78597_-1+78598dup
NM_015384.4:c.212_213dup	NP_056199.2:p.Val72ArgfsTer7
NM_133433.3:c.212_213dup	NP_597677.2:p.Val72ArgfsTer7
XM_005248280.2:c.212_213dup	XP_005248337.1:p.Val72ArgfsTer7
XM_006714467.2:c.212_213dup	XP_006714530.1:p.Val72ArgfsTer7
XM_006714468.1:c.212_213dup	XP_006714531.1:p.Val72ArgfsTer7
XM_011514014.1:c.212_213dup	XP_011512316.1:p.Val72ArgfsTer7
XM_011514015.1:c.212_213dup	XP_011512317.1:p.Val72ArgfsTer7
XM_005248280.3:c.212_213dup	XP_005248337.1:p.Val72ArgfsTer7
XM_006714468.2:c.212_213dup	XP_006714531.1:p.Val72ArgfsTer7
XM_017009329.1:c.212_213dup	XP_016864818.1:p.Val72ArgfsTer7
XM_017009331.1:c.212_213dup	XP_016864820.1:p.Val72ArgfsTer7
NM_133433.4:c.212_213dup MANE Select	NP_597677.2:p.Val72ArgfsTer7
NM_015384.5:c.212_213dup	NP_056199.2:p.Val72ArgfsTer7