Canonical Allele Identifier: CA559295295

Gene: NIPBL

Linked Data

• dbSNP Id: rs1251357780
• gnomAD v2: 5-37045722-T-TATTTA
• MyVariant Identifiers: chr5:g.37045722_37045723insATTTA (hg19) ; chr5:g.37045620_37045621insATTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045620_37045621insATTTA , CM000667.2:g.37045620_37045621insATTTA	GRCh38
NC_000005.9:g.37045722_37045723insATTTA , CM000667.1:g.37045722_37045723insATTTA	GRCh37
NC_000005.8:g.37081479_37081480insATTTA	NCBI36
NG_006987.1:g.173738_173739insATTTA
NG_006987.2:g.173738_173739insATTTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6498+23_6498+24insATTTA MANE Select	ENSP00000282516.8:n.6498+23_6498+24insATT...
ENST00000652901.1:c.6498+23_6498+24insATTTA	ENSP00000499536.1:n.6498+23_6498+24insATT...
ENST00000282516.12:c.6498+23_6498+24insATTTA	ENSP00000282516.8:n.6498+23_6498+24insATT...
ENST00000448238.2:c.6498+23_6498+24insATTTA	ENSP00000406266.2:n.6498+23_6498+24insATT...
ENST00000621733.1:c.1-18958_1-18957insATTTA	ENSP00000480694.1:n.1-18958_1-18957insATT...
NM_015384.4:c.6498+23_6498+24insATTTA	NP_056199.2:n.6498+23_6498+24insATTTA
NM_133433.3:c.6498+23_6498+24insATTTA	NP_597677.2:n.6498+23_6498+24insATTTA
XM_005248280.2:c.6498+23_6498+24insATTTA	XP_005248337.1:n.6498+23_6498+24insATTTA
XM_005248282.3:c.5754+23_5754+24insATTTA	XP_005248339.2:n.5754+23_5754+24insATTTA
XM_006714467.2:c.6498+23_6498+24insATTTA	XP_006714530.1:n.6498+23_6498+24insATTTA
XM_006714468.1:c.6300+23_6300+24insATTTA	XP_006714531.1:n.6300+23_6300+24insATTTA
XM_011514014.1:c.6117+23_6117+24insATTTA	XP_011512316.1:n.6117+23_6117+24insATTTA
XM_011514015.1:c.6498+23_6498+24insATTTA	XP_011512317.1:n.6498+23_6498+24insATTTA
XM_005248280.3:c.6498+23_6498+24insATTTA	XP_005248337.1:n.6498+23_6498+24insATTTA
XM_005248282.5:c.5838+23_5838+24insATTTA	XP_005248339.3:n.5838+23_5838+24insATTTA
XM_006714468.2:c.6300+23_6300+24insATTTA	XP_006714531.1:n.6300+23_6300+24insATTTA
XM_017009329.1:c.6498+23_6498+24insATTTA	XP_016864818.1:n.6498+23_6498+24insATTTA
XM_017009330.2:c.4881+23_4881+24insATTTA	XP_016864819.1:n.4881+23_4881+24insATTTA
XM_017009331.1:c.4872+23_4872+24insATTTA	XP_016864820.1:n.4872+23_4872+24insATTTA
NM_133433.4:c.6498+23_6498+24insATTTA MANE Select	NP_597677.2:n.6498+23_6498+24insATTTA
NM_015384.5:c.6498+23_6498+24insATTTA	NP_056199.2:n.6498+23_6498+24insATTTA