Canonical Allele Identifier: CA810287687

Gene: NIPBL

Linked Data

• dbSNP Id: rs1475551704
• gnomAD v3: 5-37020263-GTAAAA-G
• gnomAD v4: 5-37020263-GTAAAA-G
• MyVariant Identifiers: chr5:g.37020366_37020370del (hg19) ; chr5:g.37020264_37020268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020267_37020271del , CM000667.2:g.37020267_37020271del	GRCh38
NC_000005.9:g.37020369_37020373del , CM000667.1:g.37020369_37020373del	GRCh37
NC_000005.8:g.37056126_37056130del	NCBI36
NG_006987.1:g.148385_148389del
NG_006987.2:g.148385_148389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-192_5011-188del MANE Select	ENSP00000282516.8:n.5011-192_5011-188del
ENST00000652901.1:c.5011-192_5011-188del	ENSP00000499536.1:n.5011-192_5011-188del
ENST00000282516.12:c.5011-192_5011-188del	ENSP00000282516.8:n.5011-192_5011-188del
ENST00000448238.2:c.5011-192_5011-188del	ENSP00000406266.2:n.5011-192_5011-188del
ENST00000621733.1:c.1-44311_1-44307del	ENSP00000480694.1:n.1-44311_1-44307del
NM_015384.4:c.5011-192_5011-188del	NP_056199.2:n.5011-192_5011-188del
NM_133433.3:c.5011-192_5011-188del	NP_597677.2:n.5011-192_5011-188del
XM_005248280.2:c.5011-192_5011-188del	XP_005248337.1:n.5011-192_5011-188del
XM_005248282.3:c.4267-192_4267-188del	XP_005248339.2:n.4267-192_4267-188del
XM_006714467.2:c.5011-192_5011-188del	XP_006714530.1:n.5011-192_5011-188del
XM_006714468.1:c.4813-192_4813-188del	XP_006714531.1:n.4813-192_4813-188del
XM_011514014.1:c.4630-192_4630-188del	XP_011512316.1:n.4630-192_4630-188del
XM_011514015.1:c.5011-192_5011-188del	XP_011512317.1:n.5011-192_5011-188del
XM_005248280.3:c.5011-192_5011-188del	XP_005248337.1:n.5011-192_5011-188del
XM_005248282.5:c.4351-192_4351-188del	XP_005248339.3:n.4351-192_4351-188del
XM_006714468.2:c.4813-192_4813-188del	XP_006714531.1:n.4813-192_4813-188del
XM_017009329.1:c.5011-192_5011-188del	XP_016864818.1:n.5011-192_5011-188del
XM_017009330.2:c.3394-192_3394-188del	XP_016864819.1:n.3394-192_3394-188del
XM_017009331.1:c.3385-192_3385-188del	XP_016864820.1:n.3385-192_3385-188del
NM_133433.4:c.5011-192_5011-188del MANE Select	NP_597677.2:n.5011-192_5011-188del
NM_015384.5:c.5011-192_5011-188del	NP_056199.2:n.5011-192_5011-188del