Canonical Allele Identifier: CA2673552146

Gene: NIPBL

Linked Data

• gnomAD v4: 5-36958001-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958001_36958002insAT , CM000667.2:g.36958001_36958002insAT	GRCh38
NC_000005.9:g.36958103_36958104insAT , CM000667.1:g.36958103_36958104insAT	GRCh37
NC_000005.8:g.36993860_36993861insAT	NCBI36
NG_006987.1:g.86119_86120insAT
NG_006987.2:g.86119_86120insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282516.13:c.231-103_231-102insAT MANE Select	ENSP00000282516.8:n.231-103_231-102insAT
ENST00000652901.1:c.231-103_231-102insAT	ENSP00000499536.1:n.231-103_231-102insAT
ENST00000282516.12:c.231-103_231-102insAT	ENSP00000282516.8:n.231-103_231-102insAT
ENST00000448238.2:c.231-103_231-102insAT	ENSP00000406266.2:n.231-103_231-102insAT
ENST00000505998.5:n.210-103_210-102insAT
ENST00000621733.1:c.-1+80979_-1+80980insAT	ENSP00000480694.1:n.-1+80979_-1+80980insAT
NM_015384.4:c.231-103_231-102insAT	NP_056199.2:n.231-103_231-102insAT
NM_133433.3:c.231-103_231-102insAT	NP_597677.2:n.231-103_231-102insAT
XM_005248280.2:c.231-103_231-102insAT	XP_005248337.1:n.231-103_231-102insAT
XM_006714467.2:c.231-103_231-102insAT	XP_006714530.1:n.231-103_231-102insAT
XM_006714468.1:c.231-103_231-102insAT	XP_006714531.1:n.231-103_231-102insAT
XM_011514014.1:c.231-103_231-102insAT	XP_011512316.1:n.231-103_231-102insAT
XM_011514015.1:c.231-103_231-102insAT	XP_011512317.1:n.231-103_231-102insAT
XM_005248280.3:c.231-103_231-102insAT	XP_005248337.1:n.231-103_231-102insAT
XM_006714468.2:c.231-103_231-102insAT	XP_006714531.1:n.231-103_231-102insAT
XM_017009329.1:c.231-103_231-102insAT	XP_016864818.1:n.231-103_231-102insAT
XM_017009331.1:c.231-103_231-102insAT	XP_016864820.1:n.231-103_231-102insAT
NM_133433.4:c.231-103_231-102insAT MANE Select	NP_597677.2:n.231-103_231-102insAT
NM_015384.5:c.231-103_231-102insAT	NP_056199.2:n.231-103_231-102insAT