Canonical Allele Identifier: CA117027840

Gene: NIPBL

Linked Data

• dbSNP Id: rs756059225
• gnomAD v2: 5-37020361-CAT-C
• gnomAD v3: 5-37020259-CAT-C
• gnomAD v4: 5-37020259-CAT-C
• MyVariant Identifiers: chr5:g.37020362_37020363del (hg19) ; chr5:g.37020260_37020261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020261_37020262del , CM000667.2:g.37020261_37020262del	GRCh38
NC_000005.9:g.37020363_37020364del , CM000667.1:g.37020363_37020364del	GRCh37
NC_000005.8:g.37056120_37056121del	NCBI36
NG_006987.1:g.148379_148380del
NG_006987.2:g.148379_148380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-198_5011-197del MANE Select	ENSP00000282516.8:n.5011-198_5011-197del
ENST00000652901.1:c.5011-198_5011-197del	ENSP00000499536.1:n.5011-198_5011-197del
ENST00000282516.12:c.5011-198_5011-197del	ENSP00000282516.8:n.5011-198_5011-197del
ENST00000448238.2:c.5011-198_5011-197del	ENSP00000406266.2:n.5011-198_5011-197del
ENST00000621733.1:c.1-44317_1-44316del	ENSP00000480694.1:n.1-44317_1-44316del
NM_015384.4:c.5011-198_5011-197del	NP_056199.2:n.5011-198_5011-197del
NM_133433.3:c.5011-198_5011-197del	NP_597677.2:n.5011-198_5011-197del
XM_005248280.2:c.5011-198_5011-197del	XP_005248337.1:n.5011-198_5011-197del
XM_005248282.3:c.4267-198_4267-197del	XP_005248339.2:n.4267-198_4267-197del
XM_006714467.2:c.5011-198_5011-197del	XP_006714530.1:n.5011-198_5011-197del
XM_006714468.1:c.4813-198_4813-197del	XP_006714531.1:n.4813-198_4813-197del
XM_011514014.1:c.4630-198_4630-197del	XP_011512316.1:n.4630-198_4630-197del
XM_011514015.1:c.5011-198_5011-197del	XP_011512317.1:n.5011-198_5011-197del
XM_005248280.3:c.5011-198_5011-197del	XP_005248337.1:n.5011-198_5011-197del
XM_005248282.5:c.4351-198_4351-197del	XP_005248339.3:n.4351-198_4351-197del
XM_006714468.2:c.4813-198_4813-197del	XP_006714531.1:n.4813-198_4813-197del
XM_017009329.1:c.5011-198_5011-197del	XP_016864818.1:n.5011-198_5011-197del
XM_017009330.2:c.3394-198_3394-197del	XP_016864819.1:n.3394-198_3394-197del
XM_017009331.1:c.3385-198_3385-197del	XP_016864820.1:n.3385-198_3385-197del
NM_133433.4:c.5011-198_5011-197del MANE Select	NP_597677.2:n.5011-198_5011-197del
NM_015384.5:c.5011-198_5011-197del	NP_056199.2:n.5011-198_5011-197del