Canonical Allele Identifier: CA117028246

Gene: NIPBL

Linked Data

• dbSNP Id: rs529465497
• gnomAD v2: 5-37021089-ATAGATG-A
• gnomAD v3: 5-37020987-ATAGATG-A
• gnomAD v4: 5-37020987-ATAGATG-A
• MyVariant Identifiers: chr5:g.37021090_37021095del (hg19) ; chr5:g.37020988_37020993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020991_37020996del , CM000667.2:g.37020991_37020996del	GRCh38
NC_000005.9:g.37021093_37021098del , CM000667.1:g.37021093_37021098del	GRCh37
NC_000005.8:g.37056850_37056855del	NCBI36
NG_006987.1:g.149109_149114del
NG_006987.2:g.149109_149114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5328+114_5328+119del MANE Select	ENSP00000282516.8:n.5328+114_5328+119del
ENST00000652901.1:c.5328+114_5328+119del	ENSP00000499536.1:n.5328+114_5328+119del
ENST00000282516.12:c.5328+114_5328+119del	ENSP00000282516.8:n.5328+114_5328+119del
ENST00000448238.2:c.5328+114_5328+119del	ENSP00000406266.2:n.5328+114_5328+119del
ENST00000621733.1:c.1-43587_1-43582del	ENSP00000480694.1:n.1-43587_1-43582del
NM_015384.4:c.5328+114_5328+119del	NP_056199.2:n.5328+114_5328+119del
NM_133433.3:c.5328+114_5328+119del	NP_597677.2:n.5328+114_5328+119del
XM_005248280.2:c.5328+114_5328+119del	XP_005248337.1:n.5328+114_5328+119del
XM_005248282.3:c.4584+114_4584+119del	XP_005248339.2:n.4584+114_4584+119del
XM_006714467.2:c.5328+114_5328+119del	XP_006714530.1:n.5328+114_5328+119del
XM_006714468.1:c.5130+114_5130+119del	XP_006714531.1:n.5130+114_5130+119del
XM_011514014.1:c.4947+114_4947+119del	XP_011512316.1:n.4947+114_4947+119del
XM_011514015.1:c.5328+114_5328+119del	XP_011512317.1:n.5328+114_5328+119del
XM_005248280.3:c.5328+114_5328+119del	XP_005248337.1:n.5328+114_5328+119del
XM_005248282.5:c.4668+114_4668+119del	XP_005248339.3:n.4668+114_4668+119del
XM_006714468.2:c.5130+114_5130+119del	XP_006714531.1:n.5130+114_5130+119del
XM_017009329.1:c.5328+114_5328+119del	XP_016864818.1:n.5328+114_5328+119del
XM_017009330.2:c.3711+114_3711+119del	XP_016864819.1:n.3711+114_3711+119del
XM_017009331.1:c.3702+114_3702+119del	XP_016864820.1:n.3702+114_3702+119del
NM_133433.4:c.5328+114_5328+119del MANE Select	NP_597677.2:n.5328+114_5328+119del
NM_015384.5:c.5328+114_5328+119del	NP_056199.2:n.5328+114_5328+119del