Canonical Allele Identifier: CA2595470420

Gene: NIPBL

Linked Data

• dbSNP Id: rs2149721717
• gnomAD v3: 5-37038848-TTAC-T
• gnomAD v4: 5-37038848-TTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37038850_37038852del , CM000667.2:g.37038850_37038852del	GRCh38
NC_000005.9:g.37038952_37038954del , CM000667.1:g.37038952_37038954del	GRCh37
NC_000005.8:g.37074709_37074711del	NCBI36
NG_006987.1:g.166968_166970del
NG_006987.2:g.166968_166970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.6108+112_6108+114del MANE Select	ENSP00000282516.8:n.6108+112_6108+114del
ENST00000652901.1:c.6108+112_6108+114del	ENSP00000499536.1:n.6108+112_6108+114del
ENST00000282516.12:c.6108+112_6108+114del	ENSP00000282516.8:n.6108+112_6108+114del
ENST00000448238.2:c.6108+112_6108+114del	ENSP00000406266.2:n.6108+112_6108+114del
ENST00000621733.1:c.1-25728_1-25726del	ENSP00000480694.1:n.1-25728_1-25726del
NM_015384.4:c.6108+112_6108+114del	NP_056199.2:n.6108+112_6108+114del
NM_133433.3:c.6108+112_6108+114del	NP_597677.2:n.6108+112_6108+114del
XM_005248280.2:c.6108+112_6108+114del	XP_005248337.1:n.6108+112_6108+114del
XM_005248282.3:c.5364+112_5364+114del	XP_005248339.2:n.5364+112_5364+114del
XM_006714467.2:c.6108+112_6108+114del	XP_006714530.1:n.6108+112_6108+114del
XM_006714468.1:c.5910+112_5910+114del	XP_006714531.1:n.5910+112_5910+114del
XM_011514014.1:c.5727+112_5727+114del	XP_011512316.1:n.5727+112_5727+114del
XM_011514015.1:c.6108+112_6108+114del	XP_011512317.1:n.6108+112_6108+114del
XM_005248280.3:c.6108+112_6108+114del	XP_005248337.1:n.6108+112_6108+114del
XM_005248282.5:c.5448+112_5448+114del	XP_005248339.3:n.5448+112_5448+114del
XM_006714468.2:c.5910+112_5910+114del	XP_006714531.1:n.5910+112_5910+114del
XM_017009329.1:c.6108+112_6108+114del	XP_016864818.1:n.6108+112_6108+114del
XM_017009330.2:c.4491+112_4491+114del	XP_016864819.1:n.4491+112_4491+114del
XM_017009331.1:c.4482+112_4482+114del	XP_016864820.1:n.4482+112_4482+114del
NM_133433.4:c.6108+112_6108+114del MANE Select	NP_597677.2:n.6108+112_6108+114del
NM_015384.5:c.6108+112_6108+114del	NP_056199.2:n.6108+112_6108+114del