Canonical Allele Identifier: CA810305961

Gene: NIPBL

Linked Data

• dbSNP Id: rs1335848745
• MyVariant Identifiers: chr5:g.37049561_37049563del (hg19) ; chr5:g.37049459_37049461del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37049461_37049463del , CM000667.2:g.37049461_37049463del	GRCh38
NC_000005.9:g.37049563_37049565del , CM000667.1:g.37049563_37049565del	GRCh37
NC_000005.8:g.37085320_37085322del	NCBI36
NG_006987.1:g.177579_177581del
NG_006987.2:g.177579_177581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6954+160_6954+162del MANE Select	ENSP00000282516.8:n.6954+160_6954+162del
ENST00000652901.1:c.6954+160_6954+162del	ENSP00000499536.1:n.6954+160_6954+162del
ENST00000282516.12:c.6954+160_6954+162del	ENSP00000282516.8:n.6954+160_6954+162del
ENST00000448238.2:c.6954+160_6954+162del	ENSP00000406266.2:n.6954+160_6954+162del
ENST00000621733.1:c.1-15117_1-15115del	ENSP00000480694.1:n.1-15117_1-15115del
NM_015384.4:c.6954+160_6954+162del	NP_056199.2:n.6954+160_6954+162del
NM_133433.3:c.6954+160_6954+162del	NP_597677.2:n.6954+160_6954+162del
XM_005248280.2:c.6954+160_6954+162del	XP_005248337.1:n.6954+160_6954+162del
XM_005248282.3:c.6210+160_6210+162del	XP_005248339.2:n.6210+160_6210+162del
XM_006714467.2:c.6954+160_6954+162del	XP_006714530.1:n.6954+160_6954+162del
XM_006714468.1:c.6756+160_6756+162del	XP_006714531.1:n.6756+160_6756+162del
XM_011514014.1:c.6573+160_6573+162del	XP_011512316.1:n.6573+160_6573+162del
XM_011514015.1:c.6954+160_6954+162del	XP_011512317.1:n.6954+160_6954+162del
XM_005248280.3:c.6954+160_6954+162del	XP_005248337.1:n.6954+160_6954+162del
XM_005248282.5:c.6294+160_6294+162del	XP_005248339.3:n.6294+160_6294+162del
XM_006714468.2:c.6756+160_6756+162del	XP_006714531.1:n.6756+160_6756+162del
XM_017009329.1:c.6954+160_6954+162del	XP_016864818.1:n.6954+160_6954+162del
XM_017009330.2:c.5337+160_5337+162del	XP_016864819.1:n.5337+160_5337+162del
XM_017009331.1:c.5328+160_5328+162del	XP_016864820.1:n.5328+160_5328+162del
NM_133433.4:c.6954+160_6954+162del MANE Select	NP_597677.2:n.6954+160_6954+162del
NM_015384.5:c.6954+160_6954+162del	NP_056199.2:n.6954+160_6954+162del