Canonical Allele Identifier: CA810296706

Gene: NIPBL

Linked Data

• dbSNP Id: rs1226645546
• gnomAD v3: 5-36995918-AAC-A
• gnomAD v4: 5-36995918-AAC-A
• MyVariant Identifiers: chr5:g.36996021_36996022del (hg19) ; chr5:g.36995919_36995920del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995922_36995923del , CM000667.2:g.36995922_36995923del	GRCh38
NC_000005.9:g.36996024_36996025del , CM000667.1:g.36996024_36996025del	GRCh37
NC_000005.8:g.37031781_37031782del	NCBI36
NG_006987.1:g.124040_124041del
NG_006987.2:g.124040_124041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+118_3304+119del MANE Select	ENSP00000282516.8:n.3304+118_3304+119del
ENST00000652901.1:c.3304+118_3304+119del	ENSP00000499536.1:n.3304+118_3304+119del
ENST00000282516.12:c.3304+118_3304+119del	ENSP00000282516.8:n.3304+118_3304+119del
ENST00000448238.2:c.3304+118_3304+119del	ENSP00000406266.2:n.3304+118_3304+119del
ENST00000503274.1:n.655+118_655+119del
ENST00000504430.5:n.2924+118_2924+119del
ENST00000509429.1:n.55+118_55+119del
ENST00000621733.1:c.1-68656_1-68655del	ENSP00000480694.1:n.1-68656_1-68655del
NM_015384.4:c.3304+118_3304+119del	NP_056199.2:n.3304+118_3304+119del
NM_133433.3:c.3304+118_3304+119del	NP_597677.2:n.3304+118_3304+119del
XM_005248280.2:c.3304+118_3304+119del	XP_005248337.1:n.3304+118_3304+119del
XM_005248282.3:c.2560+118_2560+119del	XP_005248339.2:n.2560+118_2560+119del
XM_006714467.2:c.3304+118_3304+119del	XP_006714530.1:n.3304+118_3304+119del
XM_006714468.1:c.3304+118_3304+119del	XP_006714531.1:n.3304+118_3304+119del
XM_011514014.1:c.3122-4895_3122-4894del	XP_011512316.1:n.3122-4895_3122-4894del
XM_011514015.1:c.3304+118_3304+119del	XP_011512317.1:n.3304+118_3304+119del
XM_005248280.3:c.3304+118_3304+119del	XP_005248337.1:n.3304+118_3304+119del
XM_005248282.5:c.2644+118_2644+119del	XP_005248339.3:n.2644+118_2644+119del
XM_006714468.2:c.3304+118_3304+119del	XP_006714531.1:n.3304+118_3304+119del
XM_017009329.1:c.3304+118_3304+119del	XP_016864818.1:n.3304+118_3304+119del
XM_017009330.2:c.1687+118_1687+119del	XP_016864819.1:n.1687+118_1687+119del
XM_017009331.1:c.1678+118_1678+119del	XP_016864820.1:n.1678+118_1678+119del
NM_133433.4:c.3304+118_3304+119del MANE Select	NP_597677.2:n.3304+118_3304+119del
NM_015384.5:c.3304+118_3304+119del	NP_056199.2:n.3304+118_3304+119del