Canonical Allele Identifier: CA559015782

Gene: NIPBL

Linked Data

• dbSNP Id: rs1395433779
• gnomAD v2: 5-37020368-AAAT-A
• gnomAD v3: 5-37020266-AAAT-A
• gnomAD v4: 5-37020266-AAAT-A
• MyVariant Identifiers: chr5:g.37020369_37020371del (hg19) ; chr5:g.37020267_37020269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37020272_37020274del , CM000667.2:g.37020272_37020274del	GRCh38
NC_000005.9:g.37020374_37020376del , CM000667.1:g.37020374_37020376del	GRCh37
NC_000005.8:g.37056131_37056133del	NCBI36
NG_006987.1:g.148390_148392del
NG_006987.2:g.148390_148392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.5011-187_5011-185del MANE Select	ENSP00000282516.8:n.5011-187_5011-185del
ENST00000652901.1:c.5011-187_5011-185del	ENSP00000499536.1:n.5011-187_5011-185del
ENST00000282516.12:c.5011-187_5011-185del	ENSP00000282516.8:n.5011-187_5011-185del
ENST00000448238.2:c.5011-187_5011-185del	ENSP00000406266.2:n.5011-187_5011-185del
ENST00000621733.1:c.1-44306_1-44304del	ENSP00000480694.1:n.1-44306_1-44304del
NM_015384.4:c.5011-187_5011-185del	NP_056199.2:n.5011-187_5011-185del
NM_133433.3:c.5011-187_5011-185del	NP_597677.2:n.5011-187_5011-185del
XM_005248280.2:c.5011-187_5011-185del	XP_005248337.1:n.5011-187_5011-185del
XM_005248282.3:c.4267-187_4267-185del	XP_005248339.2:n.4267-187_4267-185del
XM_006714467.2:c.5011-187_5011-185del	XP_006714530.1:n.5011-187_5011-185del
XM_006714468.1:c.4813-187_4813-185del	XP_006714531.1:n.4813-187_4813-185del
XM_011514014.1:c.4630-187_4630-185del	XP_011512316.1:n.4630-187_4630-185del
XM_011514015.1:c.5011-187_5011-185del	XP_011512317.1:n.5011-187_5011-185del
XM_005248280.3:c.5011-187_5011-185del	XP_005248337.1:n.5011-187_5011-185del
XM_005248282.5:c.4351-187_4351-185del	XP_005248339.3:n.4351-187_4351-185del
XM_006714468.2:c.4813-187_4813-185del	XP_006714531.1:n.4813-187_4813-185del
XM_017009329.1:c.5011-187_5011-185del	XP_016864818.1:n.5011-187_5011-185del
XM_017009330.2:c.3394-187_3394-185del	XP_016864819.1:n.3394-187_3394-185del
XM_017009331.1:c.3385-187_3385-185del	XP_016864820.1:n.3385-187_3385-185del
NM_133433.4:c.5011-187_5011-185del MANE Select	NP_597677.2:n.5011-187_5011-185del
NM_015384.5:c.5011-187_5011-185del	NP_056199.2:n.5011-187_5011-185del