Canonical Allele Identifier: CA559014122

Gene: NIPBL

Linked Data

• dbSNP Id: rs1193301511
• gnomAD v2: 5-37015896-GT-G
• gnomAD v3: 5-37015794-GT-G
• gnomAD v4: 5-37015794-GT-G
• MyVariant Identifiers: chr5:g.37015897del (hg19) ; chr5:g.37015795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37015797del , CM000667.2:g.37015797del	GRCh38
NC_000005.9:g.37015899del , CM000667.1:g.37015899del	GRCh37
NC_000005.8:g.37051656del	NCBI36
NG_006987.1:g.143915del
NG_006987.2:g.143915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.4644-241del MANE Select	ENSP00000282516.8:n.4644-241del
ENST00000652901.1:c.4644-241del	ENSP00000499536.1:n.4644-241del
ENST00000282516.12:c.4644-241del	ENSP00000282516.8:n.4644-241del
ENST00000448238.2:c.4644-241del	ENSP00000406266.2:n.4644-241del
ENST00000621733.1:c.1-48781del	ENSP00000480694.1:n.1-48781del
NM_015384.4:c.4644-241del	NP_056199.2:n.4644-241del
NM_133433.3:c.4644-241del	NP_597677.2:n.4644-241del
XM_005248280.2:c.4644-241del	XP_005248337.1:n.4644-241del
XM_005248282.3:c.3900-241del	XP_005248339.2:n.3900-241del
XM_006714467.2:c.4644-241del	XP_006714530.1:n.4644-241del
XM_006714468.1:c.4446-241del	XP_006714531.1:n.4446-241del
XM_011514014.1:c.4263-241del	XP_011512316.1:n.4263-241del
XM_011514015.1:c.4644-241del	XP_011512317.1:n.4644-241del
XM_005248280.3:c.4644-241del	XP_005248337.1:n.4644-241del
XM_005248282.5:c.3984-241del	XP_005248339.3:n.3984-241del
XM_006714468.2:c.4446-241del	XP_006714531.1:n.4446-241del
XM_017009329.1:c.4644-241del	XP_016864818.1:n.4644-241del
XM_017009330.2:c.3027-241del	XP_016864819.1:n.3027-241del
XM_017009331.1:c.3018-241del	XP_016864820.1:n.3018-241del
NM_133433.4:c.4644-241del MANE Select	NP_597677.2:n.4644-241del
NM_015384.5:c.4644-241del	NP_056199.2:n.4644-241del