Canonical Allele Identifier: CA1539601998

Gene: NIPBL

Linked Data

• dbSNP Id: rs1746779010

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37001340_37001341del , CM000667.2:g.37001340_37001341del	GRCh38
NC_000005.9:g.37001442_37001443del , CM000667.1:g.37001442_37001443del	GRCh37
NC_000005.8:g.37037199_37037200del	NCBI36
NG_006987.1:g.129458_129459del
NG_006987.2:g.129458_129459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3664+262_3664+263del MANE Select	ENSP00000282516.8:n.3664+262_3664+263del
ENST00000652901.1:c.3664+262_3664+263del	ENSP00000499536.1:n.3664+262_3664+263del
ENST00000282516.12:c.3664+262_3664+263del	ENSP00000282516.8:n.3664+262_3664+263del
ENST00000448238.2:c.3664+262_3664+263del	ENSP00000406266.2:n.3664+262_3664+263del
ENST00000621733.1:c.1-63238_1-63237del	ENSP00000480694.1:n.1-63238_1-63237del
NM_015384.4:c.3664+262_3664+263del	NP_056199.2:n.3664+262_3664+263del
NM_133433.3:c.3664+262_3664+263del	NP_597677.2:n.3664+262_3664+263del
XM_005248280.2:c.3664+262_3664+263del	XP_005248337.1:n.3664+262_3664+263del
XM_005248282.3:c.2920+262_2920+263del	XP_005248339.2:n.2920+262_2920+263del
XM_006714467.2:c.3664+262_3664+263del	XP_006714530.1:n.3664+262_3664+263del
XM_006714468.1:c.3466+262_3466+263del	XP_006714531.1:n.3466+262_3466+263del
XM_011514014.1:c.3283+262_3283+263del	XP_011512316.1:n.3283+262_3283+263del
XM_011514015.1:c.3664+262_3664+263del	XP_011512317.1:n.3664+262_3664+263del
XM_005248280.3:c.3664+262_3664+263del	XP_005248337.1:n.3664+262_3664+263del
XM_005248282.5:c.3004+262_3004+263del	XP_005248339.3:n.3004+262_3004+263del
XM_006714468.2:c.3466+262_3466+263del	XP_006714531.1:n.3466+262_3466+263del
XM_017009329.1:c.3664+262_3664+263del	XP_016864818.1:n.3664+262_3664+263del
XM_017009330.2:c.2047+262_2047+263del	XP_016864819.1:n.2047+262_2047+263del
XM_017009331.1:c.2038+262_2038+263del	XP_016864820.1:n.2038+262_2038+263del
NM_133433.4:c.3664+262_3664+263del MANE Select	NP_597677.2:n.3664+262_3664+263del
NM_015384.5:c.3664+262_3664+263del	NP_056199.2:n.3664+262_3664+263del