Canonical Allele Identifier: CA1075109226

Gene: NIPBL

Linked Data

• dbSNP Id: rs1746768921
• gnomAD v3: 5-37001268-CCTAA-C
• gnomAD v4: 5-37001268-CCTAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001272_37001275del , CM000667.2:g.37001272_37001275del	GRCh38
NC_000005.9:g.37001374_37001377del , CM000667.1:g.37001374_37001377del	GRCh37
NC_000005.8:g.37037131_37037134del	NCBI36
NG_006987.1:g.129390_129393del
NG_006987.2:g.129390_129393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3664+194_3664+197del MANE Select	ENSP00000282516.8:n.3664+194_3664+197del
ENST00000652901.1:c.3664+194_3664+197del	ENSP00000499536.1:n.3664+194_3664+197del
ENST00000282516.12:c.3664+194_3664+197del	ENSP00000282516.8:n.3664+194_3664+197del
ENST00000448238.2:c.3664+194_3664+197del	ENSP00000406266.2:n.3664+194_3664+197del
ENST00000621733.1:c.1-63306_1-63303del	ENSP00000480694.1:n.1-63306_1-63303del
NM_015384.4:c.3664+194_3664+197del	NP_056199.2:n.3664+194_3664+197del
NM_133433.3:c.3664+194_3664+197del	NP_597677.2:n.3664+194_3664+197del
XM_005248280.2:c.3664+194_3664+197del	XP_005248337.1:n.3664+194_3664+197del
XM_005248282.3:c.2920+194_2920+197del	XP_005248339.2:n.2920+194_2920+197del
XM_006714467.2:c.3664+194_3664+197del	XP_006714530.1:n.3664+194_3664+197del
XM_006714468.1:c.3466+194_3466+197del	XP_006714531.1:n.3466+194_3466+197del
XM_011514014.1:c.3283+194_3283+197del	XP_011512316.1:n.3283+194_3283+197del
XM_011514015.1:c.3664+194_3664+197del	XP_011512317.1:n.3664+194_3664+197del
XM_005248280.3:c.3664+194_3664+197del	XP_005248337.1:n.3664+194_3664+197del
XM_005248282.5:c.3004+194_3004+197del	XP_005248339.3:n.3004+194_3004+197del
XM_006714468.2:c.3466+194_3466+197del	XP_006714531.1:n.3466+194_3466+197del
XM_017009329.1:c.3664+194_3664+197del	XP_016864818.1:n.3664+194_3664+197del
XM_017009330.2:c.2047+194_2047+197del	XP_016864819.1:n.2047+194_2047+197del
XM_017009331.1:c.2038+194_2038+197del	XP_016864820.1:n.2038+194_2038+197del
NM_133433.4:c.3664+194_3664+197del MANE Select	NP_597677.2:n.3664+194_3664+197del
NM_015384.5:c.3664+194_3664+197del	NP_056199.2:n.3664+194_3664+197del