Canonical Allele Identifier: CA2673574315

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36995822-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36995824_36995825del , CM000667.2:g.36995824_36995825del	GRCh38
NC_000005.9:g.36995926_36995927del , CM000667.1:g.36995926_36995927del	GRCh37
NC_000005.8:g.37031683_37031684del	NCBI36
NG_006987.1:g.123942_123943del
NG_006987.2:g.123942_123943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.3304+20_3304+21del MANE Select	ENSP00000282516.8:n.3304+20_3304+21del
ENST00000652901.1:c.3304+20_3304+21del	ENSP00000499536.1:n.3304+20_3304+21del
ENST00000282516.12:c.3304+20_3304+21del	ENSP00000282516.8:n.3304+20_3304+21del
ENST00000448238.2:c.3304+20_3304+21del	ENSP00000406266.2:n.3304+20_3304+21del
ENST00000503274.1:n.655+20_655+21del
ENST00000504430.5:n.2924+20_2924+21del
ENST00000509429.1:n.55+20_55+21del
ENST00000621733.1:c.1-68754_1-68753del	ENSP00000480694.1:n.1-68754_1-68753del
NM_015384.4:c.3304+20_3304+21del	NP_056199.2:n.3304+20_3304+21del
NM_133433.3:c.3304+20_3304+21del	NP_597677.2:n.3304+20_3304+21del
XM_005248280.2:c.3304+20_3304+21del	XP_005248337.1:n.3304+20_3304+21del
XM_005248282.3:c.2560+20_2560+21del	XP_005248339.2:n.2560+20_2560+21del
XM_006714467.2:c.3304+20_3304+21del	XP_006714530.1:n.3304+20_3304+21del
XM_006714468.1:c.3304+20_3304+21del	XP_006714531.1:n.3304+20_3304+21del
XM_011514014.1:c.3122-4993_3122-4992del	XP_011512316.1:n.3122-4993_3122-4992del
XM_011514015.1:c.3304+20_3304+21del	XP_011512317.1:n.3304+20_3304+21del
XM_005248280.3:c.3304+20_3304+21del	XP_005248337.1:n.3304+20_3304+21del
XM_005248282.5:c.2644+20_2644+21del	XP_005248339.3:n.2644+20_2644+21del
XM_006714468.2:c.3304+20_3304+21del	XP_006714531.1:n.3304+20_3304+21del
XM_017009329.1:c.3304+20_3304+21del	XP_016864818.1:n.3304+20_3304+21del
XM_017009330.2:c.1687+20_1687+21del	XP_016864819.1:n.1687+20_1687+21del
XM_017009331.1:c.1678+20_1678+21del	XP_016864820.1:n.1678+20_1678+21del
NM_133433.4:c.3304+20_3304+21del MANE Select	NP_597677.2:n.3304+20_3304+21del
NM_015384.5:c.3304+20_3304+21del	NP_056199.2:n.3304+20_3304+21del