Canonical Allele Identifier: CA559021912

Gene: NIPBL

Linked Data

• dbSNP Id: rs1228152662
• gnomAD v2: 5-37049358-TGTC-T
• MyVariant Identifiers: chr5:g.37049359_37049361del (hg19) ; chr5:g.37049257_37049259del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049257_37049259del , CM000667.2:g.37049257_37049259del	GRCh38
NC_000005.9:g.37049359_37049361del , CM000667.1:g.37049359_37049361del	GRCh37
NC_000005.8:g.37085116_37085118del	NCBI36
NG_006987.1:g.177375_177377del
NG_006987.2:g.177375_177377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6910_6912del MANE Select	ENSP00000282516.8:p.Val2304del
ENST00000652901.1:c.6910_6912del	ENSP00000499536.1:p.Val2304del
ENST00000282516.12:c.6910_6912del	ENSP00000282516.8:p.Val2304del
ENST00000448238.2:c.6910_6912del	ENSP00000406266.2:p.Val2304del
ENST00000621733.1:c.1-15321_1-15319del	ENSP00000480694.1:n.1-15321_1-15319del
NM_015384.4:c.6910_6912del	NP_056199.2:p.Val2304del
NM_133433.3:c.6910_6912del	NP_597677.2:p.Val2304del
XM_005248280.2:c.6910_6912del	XP_005248337.1:p.Val2304del
XM_005248282.3:c.6166_6168del	XP_005248339.2:p.Val2056del
XM_006714467.2:c.6910_6912del	XP_006714530.1:p.Val2304del
XM_006714468.1:c.6712_6714del	XP_006714531.1:p.Val2238del
XM_011514014.1:c.6529_6531del	XP_011512316.1:p.Val2177del
XM_011514015.1:c.6910_6912del	XP_011512317.1:p.Val2304del
XM_005248280.3:c.6910_6912del	XP_005248337.1:p.Val2304del
XM_005248282.5:c.6250_6252del	XP_005248339.3:p.Val2084del
XM_006714468.2:c.6712_6714del	XP_006714531.1:p.Val2238del
XM_017009329.1:c.6910_6912del	XP_016864818.1:p.Val2304del
XM_017009330.2:c.5293_5295del	XP_016864819.1:p.Val1765del
XM_017009331.1:c.5284_5286del	XP_016864820.1:p.Val1762del
NM_133433.4:c.6910_6912del MANE Select	NP_597677.2:p.Val2304del
NM_015384.5:c.6910_6912del	NP_056199.2:p.Val2304del