Canonical Allele Identifier: CA559295137

Gene: NIPBL

Linked Data

• dbSNP Id: rs1207161308
• gnomAD v2: 5-37001034-AG-A
• MyVariant Identifiers: chr5:g.37001035del (hg19) ; chr5:g.37000933del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37000933del , CM000667.2:g.37000933del	GRCh38
NC_000005.9:g.37001035del , CM000667.1:g.37001035del	GRCh37
NC_000005.8:g.37036792del	NCBI36
NG_006987.1:g.129051del
NG_006987.2:g.129051del

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.3574+45del MANE Select	ENSP00000282516.8:n.3574+45del
ENST00000652901.1:c.3574+45del	ENSP00000499536.1:n.3574+45del
ENST00000282516.12:c.3574+45del	ENSP00000282516.8:n.3574+45del
ENST00000448238.2:c.3574+45del	ENSP00000406266.2:n.3574+45del
ENST00000621733.1:c.1-63645del	ENSP00000480694.1:n.1-63645del
NM_015384.4:c.3574+45del	NP_056199.2:n.3574+45del
NM_133433.3:c.3574+45del	NP_597677.2:n.3574+45del
XM_005248280.2:c.3574+45del	XP_005248337.1:n.3574+45del
XM_005248282.3:c.2830+45del	XP_005248339.2:n.2830+45del
XM_006714467.2:c.3574+45del	XP_006714530.1:n.3574+45del
XM_006714468.1:c.3376+45del	XP_006714531.1:n.3376+45del
XM_011514014.1:c.3193+45del	XP_011512316.1:n.3193+45del
XM_011514015.1:c.3574+45del	XP_011512317.1:n.3574+45del
XM_005248280.3:c.3574+45del	XP_005248337.1:n.3574+45del
XM_005248282.5:c.2914+45del	XP_005248339.3:n.2914+45del
XM_006714468.2:c.3376+45del	XP_006714531.1:n.3376+45del
XM_017009329.1:c.3574+45del	XP_016864818.1:n.3574+45del
XM_017009330.2:c.1957+45del	XP_016864819.1:n.1957+45del
XM_017009331.1:c.1948+45del	XP_016864820.1:n.1948+45del
NM_133433.4:c.3574+45del MANE Select	NP_597677.2:n.3574+45del
NM_015384.5:c.3574+45del	NP_056199.2:n.3574+45del